SNP Links for Protein (Select 1192732408) - SNP

Links from Protein

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Select item 14903225571.

rs1490322557 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:54283950 (GRCh38)
18:51810320 (GRCh37)
Canonical SPDI:: NC_000018.10:54283949:A:C
Gene:: POLI (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.54283950A>C, NC_000018.9:g.51810320A>C, XM_005258192.5:c.1004A>C, XM_005258192.4:c.1004A>C, XM_005258192.3:c.1004A>C, XM_005258192.2:c.1004A>C, XM_005258192.1:c.1004A>C, NM_007195.3:c.1004A>C, NM_007195.2:c.1004A>C, XM_024451081.2:c.695A>C, XM_024451081.1:c.695A>C, NM_001351612.2:c.800A>C, NM_001351612.1:c.800A>C, NM_001351615.2:c.695A>C, NM_001351615.1:c.695A>C, NM_001351611.2:c.800A>C, NM_001351611.1:c.800A>C, NM_001351619.2:c.461A>C, NM_001351619.1:c.461A>C, NM_001351632.2:c.929A>C, NM_001351632.1:c.929A>C, NM_001351618.2:c.461A>C, NM_001351618.1:c.461A>C, NM_001351614.2:c.695A>C, NM_001351614.1:c.695A>C, NM_001351617.2:c.461A>C, NM_001351617.1:c.461A>C, NM_001351620.2:c.224A>C, NM_001351620.1:c.224A>C, XM_011525797.2:c.1004A>C, XM_011525797.1:c.1004A>C, NM_001351610.1:c.878A>C, NM_001351613.1:c.767A>C, NM_001351616.1:c.641A>C, NR_147257.1:n.1145A>C, NM_001351621.1:c.1004A>C, XP_005258249.1:p.Lys335Thr, NP_009126.2:p.Lys335Thr, XP_024306849.1:p.Lys232Thr, NP_001338541.1:p.Lys267Thr, NP_001338544.1:p.Lys232Thr, NP_001338540.1:p.Lys267Thr, NP_001338548.1:p.Lys154Thr, NP_001338561.1:p.Lys310Thr, NP_001338547.1:p.Lys154Thr, NP_001338543.1:p.Lys232Thr, NP_001338546.1:p.Lys154Thr, NP_001338549.1:p.Lys75Thr, XP_011524099.1:p.Lys335Thr, NP_001338539.1:p.Lys293Thr, NP_001338542.1:p.Lys256Thr, NP_001338545.1:p.Lys214Thr, NP_001338550.1:p.Lys335Thr

Select item 14879526942.

rs1487952694 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:54274090 (GRCh38)
18:51800460 (GRCh37)
Canonical SPDI:: NC_000018.10:54274089:G:A
Gene:: POLI (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00006/1 (TOMMO)
HGVS:: NC_000018.10:g.54274090G>A, NC_000018.9:g.51800460G>A, XM_005258192.5:c.406G>A, XM_005258192.4:c.406G>A, XM_005258192.3:c.406G>A, XM_005258192.2:c.406G>A, XM_005258192.1:c.406G>A, NM_007195.3:c.406G>A, NM_007195.2:c.406G>A, XM_024451081.2:c.97G>A, XM_024451081.1:c.97G>A, NM_001351612.2:c.202G>A, NM_001351612.1:c.202G>A, NM_001351615.2:c.97G>A, NM_001351615.1:c.97G>A, NM_001351611.2:c.202G>A, NM_001351611.1:c.202G>A, NM_001351619.2:c.-136G>A, NM_001351619.1:c.-136G>A, NM_001351632.2:c.331G>A, NM_001351632.1:c.331G>A, NM_001351618.2:c.-136G>A, NM_001351618.1:c.-136G>A, NM_001351614.2:c.97G>A, NM_001351614.1:c.97G>A, NM_001351617.2:c.-136G>A, NM_001351617.1:c.-136G>A, NM_001351620.2:c.-136G>A, NM_001351620.1:c.-136G>A, XM_011525797.2:c.406G>A, XM_011525797.1:c.406G>A, NM_001351610.1:c.280G>A, NM_001351613.1:c.406G>A, NM_001351616.1:c.280G>A, NR_147257.1:n.474G>A, NM_001351621.1:c.406G>A, XP_005258249.1:p.Glu136Lys, NP_009126.2:p.Glu136Lys, XP_024306849.1:p.Glu33Lys, NP_001338541.1:p.Glu68Lys, NP_001338544.1:p.Glu33Lys, NP_001338540.1:p.Glu68Lys, NP_001338561.1:p.Glu111Lys, NP_001338543.1:p.Glu33Lys, XP_011524099.1:p.Glu136Lys, NP_001338539.1:p.Glu94Lys, NP_001338542.1:p.Glu136Lys, NP_001338545.1:p.Glu94Lys, NP_001338550.1:p.Glu136Lys

Select item 14870994413.

rs1487099441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 18:54294339 (GRCh38)
18:51820709 (GRCh37)
Canonical SPDI:: NC_000018.10:54294338:G:A,NC_000018.10:54294338:G:C
Gene:: POLI (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.54294339G>A, NC_000018.10:g.54294339G>C, NC_000018.9:g.51820709G>A, NC_000018.9:g.51820709G>C, NM_007195.3:c.2095G>A, NM_007195.3:c.2095G>C, NM_007195.2:c.2095G>A, NM_007195.2:c.2095G>C, XM_024451081.2:c.1786G>A, XM_024451081.2:c.1786G>C, XM_024451081.1:c.1786G>A, XM_024451081.1:c.1786G>C, NM_001351612.2:c.1891G>A, NM_001351612.2:c.1891G>C, NM_001351612.1:c.1891G>A, NM_001351612.1:c.1891G>C, NM_001351615.2:c.1786G>A, NM_001351615.2:c.1786G>C, NM_001351615.1:c.1786G>A, NM_001351615.1:c.1786G>C, NM_001351611.2:c.1891G>A, NM_001351611.2:c.1891G>C, NM_001351611.1:c.1891G>A, NM_001351611.1:c.1891G>C, NM_001351619.2:c.1552G>A, NM_001351619.2:c.1552G>C, NM_001351619.1:c.1552G>A, NM_001351619.1:c.1552G>C, NM_001351632.2:c.2020G>A, NM_001351632.2:c.2020G>C, NM_001351632.1:c.2020G>A, NM_001351632.1:c.2020G>C, NM_001351618.2:c.1552G>A, NM_001351618.2:c.1552G>C, NM_001351618.1:c.1552G>A, NM_001351618.1:c.1552G>C, NM_001351614.2:c.1786G>A, NM_001351614.2:c.1786G>C, NM_001351614.1:c.1786G>A, NM_001351614.1:c.1786G>C, NM_001351617.2:c.1552G>A, NM_001351617.2:c.1552G>C, NM_001351617.1:c.1552G>A, NM_001351617.1:c.1552G>C, NM_001351620.2:c.1315G>A, NM_001351620.2:c.1315G>C, NM_001351620.1:c.1315G>A, NM_001351620.1:c.1315G>C, NM_001351610.1:c.1969G>A, NM_001351610.1:c.1969G>C, NM_001351613.1:c.1858G>A, NM_001351613.1:c.1858G>C, NM_001351616.1:c.1732G>A, NM_001351616.1:c.1732G>C, NP_009126.2:p.Asp699Asn, NP_009126.2:p.Asp699His, XP_024306849.1:p.Asp596Asn, XP_024306849.1:p.Asp596His, NP_001338541.1:p.Asp631Asn, NP_001338541.1:p.Asp631His, NP_001338544.1:p.Asp596Asn, NP_001338544.1:p.Asp596His, NP_001338540.1:p.Asp631Asn, NP_001338540.1:p.Asp631His, NP_001338548.1:p.Asp518Asn, NP_001338548.1:p.Asp518His, NP_001338561.1:p.Asp674Asn, NP_001338561.1:p.Asp674His, NP_001338547.1:p.Asp518Asn, NP_001338547.1:p.Asp518His, NP_001338543.1:p.Asp596Asn, NP_001338543.1:p.Asp596His, NP_001338546.1:p.Asp518Asn, NP_001338546.1:p.Asp518His, NP_001338549.1:p.Asp439Asn, NP_001338549.1:p.Asp439His, NP_001338539.1:p.Asp657Asn, NP_001338539.1:p.Asp657His, NP_001338542.1:p.Asp620Asn, NP_001338542.1:p.Asp620His, NP_001338545.1:p.Asp578Asn, NP_001338545.1:p.Asp578His

Select item 14868517394.

rs1486851739 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 18:54280835 (GRCh38)
18:51807205 (GRCh37)
Canonical SPDI:: NC_000018.10:54280834:A:C,NC_000018.10:54280834:A:G
Gene:: POLI (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.54280835A>C, NC_000018.10:g.54280835A>G, NC_000018.9:g.51807205A>C, NC_000018.9:g.51807205A>G, XM_005258192.5:c.728A>C, XM_005258192.5:c.728A>G, XM_005258192.4:c.728A>C, XM_005258192.4:c.728A>G, XM_005258192.3:c.728A>C, XM_005258192.3:c.728A>G, XM_005258192.2:c.728A>C, XM_005258192.2:c.728A>G, XM_005258192.1:c.728A>C, XM_005258192.1:c.728A>G, NM_007195.3:c.728A>C, NM_007195.3:c.728A>G, NM_007195.2:c.728A>C, NM_007195.2:c.728A>G, XM_024451081.2:c.419A>C, XM_024451081.2:c.419A>G, XM_024451081.1:c.419A>C, XM_024451081.1:c.419A>G, NM_001351612.2:c.524A>C, NM_001351612.2:c.524A>G, NM_001351612.1:c.524A>C, NM_001351612.1:c.524A>G, NM_001351615.2:c.419A>C, NM_001351615.2:c.419A>G, NM_001351615.1:c.419A>C, NM_001351615.1:c.419A>G, NM_001351611.2:c.524A>C, NM_001351611.2:c.524A>G, NM_001351611.1:c.524A>C, NM_001351611.1:c.524A>G, NM_001351619.2:c.185A>C, NM_001351619.2:c.185A>G, NM_001351619.1:c.185A>C, NM_001351619.1:c.185A>G, NM_001351632.2:c.653A>C, NM_001351632.2:c.653A>G, NM_001351632.1:c.653A>C, NM_001351632.1:c.653A>G, NM_001351618.2:c.185A>C, NM_001351618.2:c.185A>G, NM_001351618.1:c.185A>C, NM_001351618.1:c.185A>G, NM_001351614.2:c.419A>C, NM_001351614.2:c.419A>G, NM_001351614.1:c.419A>C, NM_001351614.1:c.419A>G, NM_001351617.2:c.185A>C, NM_001351617.2:c.185A>G, NM_001351617.1:c.185A>C, NM_001351617.1:c.185A>G, XM_011525797.2:c.728A>C, XM_011525797.2:c.728A>G, XM_011525797.1:c.728A>C, XM_011525797.1:c.728A>G, NM_001351610.1:c.602A>C, NM_001351610.1:c.602A>G, NR_147257.1:n.796A>C, NR_147257.1:n.796A>G, NM_001351621.1:c.728A>C, NM_001351621.1:c.728A>G, XP_005258249.1:p.Gln243Pro, XP_005258249.1:p.Gln243Arg, NP_009126.2:p.Gln243Pro, NP_009126.2:p.Gln243Arg, XP_024306849.1:p.Gln140Pro, XP_024306849.1:p.Gln140Arg, NP_001338541.1:p.Gln175Pro, NP_001338541.1:p.Gln175Arg, NP_001338544.1:p.Gln140Pro, NP_001338544.1:p.Gln140Arg, NP_001338540.1:p.Gln175Pro, NP_001338540.1:p.Gln175Arg, NP_001338548.1:p.Gln62Pro, NP_001338548.1:p.Gln62Arg, NP_001338561.1:p.Gln218Pro, NP_001338561.1:p.Gln218Arg, NP_001338547.1:p.Gln62Pro, NP_001338547.1:p.Gln62Arg, NP_001338543.1:p.Gln140Pro, NP_001338543.1:p.Gln140Arg, NP_001338546.1:p.Gln62Pro, NP_001338546.1:p.Gln62Arg, XP_011524099.1:p.Gln243Pro, XP_011524099.1:p.Gln243Arg, NP_001338539.1:p.Gln201Pro, NP_001338539.1:p.Gln201Arg, NP_001338550.1:p.Gln243Pro, NP_001338550.1:p.Gln243Arg

Select item 14859334885.

rs1485933488 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:54277725 (GRCh38)
18:51804095 (GRCh37)
Canonical SPDI:: NC_000018.10:54277724:A:G
Gene:: POLI (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.54277725A>G, NC_000018.9:g.51804095A>G, XM_005258192.5:c.429A>G, XM_005258192.4:c.429A>G, XM_005258192.3:c.429A>G, XM_005258192.2:c.429A>G, XM_005258192.1:c.429A>G, NM_007195.3:c.429A>G, NM_007195.2:c.429A>G, XM_024451081.2:c.120A>G, XM_024451081.1:c.120A>G, NM_001351612.2:c.225A>G, NM_001351612.1:c.225A>G, NM_001351615.2:c.120A>G, NM_001351615.1:c.120A>G, NM_001351611.2:c.225A>G, NM_001351611.1:c.225A>G, NM_001351619.2:c.-113A>G, NM_001351619.1:c.-113A>G, NM_001351632.2:c.354A>G, NM_001351632.1:c.354A>G, NM_001351618.2:c.-113A>G, NM_001351618.1:c.-113A>G, NM_001351614.2:c.120A>G, NM_001351614.1:c.120A>G, NM_001351617.2:c.-113A>G, NM_001351617.1:c.-113A>G, NM_001351620.2:c.-113A>G, NM_001351620.1:c.-113A>G, XM_011525797.2:c.429A>G, XM_011525797.1:c.429A>G, NM_001351610.1:c.303A>G, NM_001351613.1:c.429A>G, NM_001351616.1:c.303A>G, NR_147257.1:n.497A>G, NM_001351621.1:c.429A>G

Select item 14834603426.

rs1483460342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:54291964 (GRCh38)
18:51818334 (GRCh37)
Canonical SPDI:: NC_000018.10:54291963:G:A,NC_000018.10:54291963:G:T
Gene:: POLI (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.54291964G>A, NC_000018.10:g.54291964G>T, NC_000018.9:g.51818334G>A, NC_000018.9:g.51818334G>T, NM_007195.3:c.1330G>A, NM_007195.3:c.1330G>T, NM_007195.2:c.1330G>A, NM_007195.2:c.1330G>T, XM_024451081.2:c.1021G>A, XM_024451081.2:c.1021G>T, XM_024451081.1:c.1021G>A, XM_024451081.1:c.1021G>T, NM_001351612.2:c.1126G>A, NM_001351612.2:c.1126G>T, NM_001351612.1:c.1126G>A, NM_001351612.1:c.1126G>T, NM_001351615.2:c.1021G>A, NM_001351615.2:c.1021G>T, NM_001351615.1:c.1021G>A, NM_001351615.1:c.1021G>T, NM_001351611.2:c.1126G>A, NM_001351611.2:c.1126G>T, NM_001351611.1:c.1126G>A, NM_001351611.1:c.1126G>T, NM_001351619.2:c.787G>A, NM_001351619.2:c.787G>T, NM_001351619.1:c.787G>A, NM_001351619.1:c.787G>T, NM_001351632.2:c.1255G>A, NM_001351632.2:c.1255G>T, NM_001351632.1:c.1255G>A, NM_001351632.1:c.1255G>T, NM_001351618.2:c.787G>A, NM_001351618.2:c.787G>T, NM_001351618.1:c.787G>A, NM_001351618.1:c.787G>T, NM_001351614.2:c.1021G>A, NM_001351614.2:c.1021G>T, NM_001351614.1:c.1021G>A, NM_001351614.1:c.1021G>T, NM_001351617.2:c.787G>A, NM_001351617.2:c.787G>T, NM_001351617.1:c.787G>A, NM_001351617.1:c.787G>T, NM_001351620.2:c.550G>A, NM_001351620.2:c.550G>T, NM_001351620.1:c.550G>A, NM_001351620.1:c.550G>T, NM_001351610.1:c.1204G>A, NM_001351610.1:c.1204G>T, NM_001351613.1:c.1093G>A, NM_001351613.1:c.1093G>T, NM_001351616.1:c.967G>A, NM_001351616.1:c.967G>T, NP_009126.2:p.Ala444Thr, NP_009126.2:p.Ala444Ser, XP_024306849.1:p.Ala341Thr, XP_024306849.1:p.Ala341Ser, NP_001338541.1:p.Ala376Thr, NP_001338541.1:p.Ala376Ser, NP_001338544.1:p.Ala341Thr, NP_001338544.1:p.Ala341Ser, NP_001338540.1:p.Ala376Thr, NP_001338540.1:p.Ala376Ser, NP_001338548.1:p.Ala263Thr, NP_001338548.1:p.Ala263Ser, NP_001338561.1:p.Ala419Thr, NP_001338561.1:p.Ala419Ser, NP_001338547.1:p.Ala263Thr, NP_001338547.1:p.Ala263Ser, NP_001338543.1:p.Ala341Thr, NP_001338543.1:p.Ala341Ser, NP_001338546.1:p.Ala263Thr, NP_001338546.1:p.Ala263Ser, NP_001338549.1:p.Ala184Thr, NP_001338549.1:p.Ala184Ser, NP_001338539.1:p.Ala402Thr, NP_001338539.1:p.Ala402Ser, NP_001338542.1:p.Ala365Thr, NP_001338542.1:p.Ala365Ser, NP_001338545.1:p.Ala323Thr, NP_001338545.1:p.Ala323Ser

Select item 14825387867.

rs1482538786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:54280767 (GRCh38)
18:51807137 (GRCh37)
Canonical SPDI:: NC_000018.10:54280766:C:G
Gene:: POLI (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.54280767C>G, NC_000018.9:g.51807137C>G, XM_005258192.5:c.660C>G, XM_005258192.4:c.660C>G, XM_005258192.3:c.660C>G, XM_005258192.2:c.660C>G, XM_005258192.1:c.660C>G, NM_007195.3:c.660C>G, NM_007195.2:c.660C>G, XM_024451081.2:c.351C>G, XM_024451081.1:c.351C>G, NM_001351612.2:c.456C>G, NM_001351612.1:c.456C>G, NM_001351615.2:c.351C>G, NM_001351615.1:c.351C>G, NM_001351611.2:c.456C>G, NM_001351611.1:c.456C>G, NM_001351619.2:c.117C>G, NM_001351619.1:c.117C>G, NM_001351632.2:c.585C>G, NM_001351632.1:c.585C>G, NM_001351618.2:c.117C>G, NM_001351618.1:c.117C>G, NM_001351614.2:c.351C>G, NM_001351614.1:c.351C>G, NM_001351617.2:c.117C>G, NM_001351617.1:c.117C>G, XM_011525797.2:c.660C>G, XM_011525797.1:c.660C>G, NM_001351610.1:c.534C>G, NR_147257.1:n.728C>G, NM_001351621.1:c.660C>G

Select item 14824846288.

rs1482484628 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:54294433 (GRCh38)
18:51820803 (GRCh37)
Canonical SPDI:: NC_000018.10:54294432:G:C
Gene:: POLI (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.54294433G>C, NC_000018.9:g.51820803G>C, NM_007195.3:c.2189G>C, NM_007195.2:c.2189G>C, XM_024451081.2:c.1880G>C, XM_024451081.1:c.1880G>C, NM_001351612.2:c.1985G>C, NM_001351612.1:c.1985G>C, NM_001351615.2:c.1880G>C, NM_001351615.1:c.1880G>C, NM_001351611.2:c.1985G>C, NM_001351611.1:c.1985G>C, NM_001351619.2:c.1646G>C, NM_001351619.1:c.1646G>C, NM_001351632.2:c.2114G>C, NM_001351632.1:c.2114G>C, NM_001351618.2:c.1646G>C, NM_001351618.1:c.1646G>C, NM_001351614.2:c.1880G>C, NM_001351614.1:c.1880G>C, NM_001351617.2:c.1646G>C, NM_001351617.1:c.1646G>C, NM_001351620.2:c.1409G>C, NM_001351620.1:c.1409G>C, NM_001351610.1:c.2063G>C, NM_001351613.1:c.1952G>C, NM_001351616.1:c.1826G>C, NP_009126.2:p.Arg730Thr, XP_024306849.1:p.Arg627Thr, NP_001338541.1:p.Arg662Thr, NP_001338544.1:p.Arg627Thr, NP_001338540.1:p.Arg662Thr, NP_001338548.1:p.Arg549Thr, NP_001338561.1:p.Arg705Thr, NP_001338547.1:p.Arg549Thr, NP_001338543.1:p.Arg627Thr, NP_001338546.1:p.Arg549Thr, NP_001338549.1:p.Arg470Thr, NP_001338539.1:p.Arg688Thr, NP_001338542.1:p.Arg651Thr, NP_001338545.1:p.Arg609Thr

Select item 14783629209.

rs1478362920 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 18:54273927 (GRCh38)
18:51800297 (GRCh37)
Canonical SPDI:: NC_000018.10:54273926:G:A,NC_000018.10:54273926:G:C,NC_000018.10:54273926:G:T
Gene:: POLI (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.54273927G>A, NC_000018.10:g.54273927G>C, NC_000018.10:g.54273927G>T, NC_000018.9:g.51800297G>A, NC_000018.9:g.51800297G>C, NC_000018.9:g.51800297G>T, XM_005258192.5:c.243G>A, XM_005258192.5:c.243G>C, XM_005258192.5:c.243G>T, XM_005258192.4:c.243G>A, XM_005258192.4:c.243G>C, XM_005258192.4:c.243G>T, XM_005258192.3:c.243G>A, XM_005258192.3:c.243G>C, XM_005258192.3:c.243G>T, XM_005258192.2:c.243G>A, XM_005258192.2:c.243G>C, XM_005258192.2:c.243G>T, XM_005258192.1:c.243G>A, XM_005258192.1:c.243G>C, XM_005258192.1:c.243G>T, NM_007195.3:c.243G>A, NM_007195.3:c.243G>C, NM_007195.3:c.243G>T, NM_007195.2:c.243G>A, NM_007195.2:c.243G>C, NM_007195.2:c.243G>T, XM_024451081.2:c.-67G>A, XM_024451081.2:c.-67G>C, XM_024451081.2:c.-67G>T, XM_024451081.1:c.-67G>A, XM_024451081.1:c.-67G>C, XM_024451081.1:c.-67G>T, NM_001351612.2:c.39G>A, NM_001351612.2:c.39G>C, NM_001351612.2:c.39G>T, NM_001351612.1:c.39G>A, NM_001351612.1:c.39G>C, NM_001351612.1:c.39G>T, NM_001351615.2:c.-67G>A, NM_001351615.2:c.-67G>C, NM_001351615.2:c.-67G>T, NM_001351615.1:c.-67G>A, NM_001351615.1:c.-67G>C, NM_001351615.1:c.-67G>T, NM_001351611.2:c.39G>A, NM_001351611.2:c.39G>C, NM_001351611.2:c.39G>T, NM_001351611.1:c.39G>A, NM_001351611.1:c.39G>C, NM_001351611.1:c.39G>T, NM_001351619.2:c.-299G>A, NM_001351619.2:c.-299G>C, NM_001351619.2:c.-299G>T, NM_001351619.1:c.-299G>A, NM_001351619.1:c.-299G>C, NM_001351619.1:c.-299G>T, NM_001351632.2:c.168G>A, NM_001351632.2:c.168G>C, NM_001351632.2:c.168G>T, NM_001351632.1:c.168G>A, NM_001351632.1:c.168G>C, NM_001351632.1:c.168G>T, NM_001351618.2:c.-299G>A, NM_001351618.2:c.-299G>C, NM_001351618.2:c.-299G>T, NM_001351618.1:c.-299G>A, NM_001351618.1:c.-299G>C, NM_001351618.1:c.-299G>T, NM_001351614.2:c.-67G>A, NM_001351614.2:c.-67G>C, NM_001351614.2:c.-67G>T, NM_001351614.1:c.-67G>A, NM_001351614.1:c.-67G>C, NM_001351614.1:c.-67G>T, NM_001351617.2:c.-299G>A, NM_001351617.2:c.-299G>C, NM_001351617.2:c.-299G>T, NM_001351617.1:c.-299G>A, NM_001351617.1:c.-299G>C, NM_001351617.1:c.-299G>T, NM_001351620.2:c.-299G>A, NM_001351620.2:c.-299G>C, NM_001351620.2:c.-299G>T, NM_001351620.1:c.-299G>A, NM_001351620.1:c.-299G>C, NM_001351620.1:c.-299G>T, XM_011525797.2:c.243G>A, XM_011525797.2:c.243G>C, XM_011525797.2:c.243G>T, XM_011525797.1:c.243G>A, XM_011525797.1:c.243G>C, XM_011525797.1:c.243G>T, NM_001351610.1:c.117G>A, NM_001351610.1:c.117G>C, NM_001351610.1:c.117G>T, NM_001351613.1:c.243G>A, NM_001351613.1:c.243G>C, NM_001351613.1:c.243G>T, NM_001351616.1:c.117G>A, NM_001351616.1:c.117G>C, NM_001351616.1:c.117G>T, NR_147257.1:n.311G>A, NR_147257.1:n.311G>C, NR_147257.1:n.311G>T, NM_001351621.1:c.243G>A, NM_001351621.1:c.243G>C, NM_001351621.1:c.243G>T

Select item 147737331010.

rs1477373310 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:54277743 (GRCh38)
18:51804113 (GRCh37)
Canonical SPDI:: NC_000018.10:54277742:A:C
Gene:: POLI (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.54277743A>C, NC_000018.9:g.51804113A>C, XM_005258192.5:c.447A>C, XM_005258192.4:c.447A>C, XM_005258192.3:c.447A>C, XM_005258192.2:c.447A>C, XM_005258192.1:c.447A>C, NM_007195.3:c.447A>C, NM_007195.2:c.447A>C, XM_024451081.2:c.138A>C, XM_024451081.1:c.138A>C, NM_001351612.2:c.243A>C, NM_001351612.1:c.243A>C, NM_001351615.2:c.138A>C, NM_001351615.1:c.138A>C, NM_001351611.2:c.243A>C, NM_001351611.1:c.243A>C, NM_001351619.2:c.-95A>C, NM_001351619.1:c.-95A>C, NM_001351632.2:c.372A>C, NM_001351632.1:c.372A>C, NM_001351618.2:c.-95A>C, NM_001351618.1:c.-95A>C, NM_001351614.2:c.138A>C, NM_001351614.1:c.138A>C, NM_001351617.2:c.-95A>C, NM_001351617.1:c.-95A>C, NM_001351620.2:c.-95A>C, NM_001351620.1:c.-95A>C, XM_011525797.2:c.447A>C, XM_011525797.1:c.447A>C, NM_001351610.1:c.321A>C, NM_001351613.1:c.447A>C, NM_001351616.1:c.321A>C, NR_147257.1:n.515A>C, NM_001351621.1:c.447A>C

Select item 147705104411.

rs1477051044 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:54283981 (GRCh38)
18:51810351 (GRCh37)
Canonical SPDI:: NC_000018.10:54283980:G:A
Gene:: POLI (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000018.10:g.54283981G>A, NC_000018.9:g.51810351G>A, XM_005258192.5:c.1035G>A, XM_005258192.4:c.1035G>A, XM_005258192.3:c.1035G>A, XM_005258192.2:c.1035G>A, XM_005258192.1:c.1035G>A, NM_007195.3:c.1035G>A, NM_007195.2:c.1035G>A, XM_024451081.2:c.726G>A, XM_024451081.1:c.726G>A, NM_001351612.2:c.831G>A, NM_001351612.1:c.831G>A, NM_001351615.2:c.726G>A, NM_001351615.1:c.726G>A, NM_001351611.2:c.831G>A, NM_001351611.1:c.831G>A, NM_001351619.2:c.492G>A, NM_001351619.1:c.492G>A, NM_001351632.2:c.960G>A, NM_001351632.1:c.960G>A, NM_001351618.2:c.492G>A, NM_001351618.1:c.492G>A, NM_001351614.2:c.726G>A, NM_001351614.1:c.726G>A, NM_001351617.2:c.492G>A, NM_001351617.1:c.492G>A, NM_001351620.2:c.255G>A, NM_001351620.1:c.255G>A, XM_011525797.2:c.1035G>A, XM_011525797.1:c.1035G>A, NM_001351610.1:c.909G>A, NM_001351613.1:c.798G>A, NM_001351616.1:c.672G>A, NR_147257.1:n.1176G>A, NM_001351621.1:c.1035G>A

Select item 147648272312.

rs1476482723 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 18:54294075 (GRCh38)
18:51820445 (GRCh37)
Canonical SPDI:: NC_000018.10:54294074:A:C,NC_000018.10:54294074:A:G
Gene:: POLI (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.54294075A>C, NC_000018.10:g.54294075A>G, NC_000018.9:g.51820445A>C, NC_000018.9:g.51820445A>G, NM_007195.3:c.1831A>C, NM_007195.3:c.1831A>G, NM_007195.2:c.1831A>C, NM_007195.2:c.1831A>G, XM_024451081.2:c.1522A>C, XM_024451081.2:c.1522A>G, XM_024451081.1:c.1522A>C, XM_024451081.1:c.1522A>G, NM_001351612.2:c.1627A>C, NM_001351612.2:c.1627A>G, NM_001351612.1:c.1627A>C, NM_001351612.1:c.1627A>G, NM_001351615.2:c.1522A>C, NM_001351615.2:c.1522A>G, NM_001351615.1:c.1522A>C, NM_001351615.1:c.1522A>G, NM_001351611.2:c.1627A>C, NM_001351611.2:c.1627A>G, NM_001351611.1:c.1627A>C, NM_001351611.1:c.1627A>G, NM_001351619.2:c.1288A>C, NM_001351619.2:c.1288A>G, NM_001351619.1:c.1288A>C, NM_001351619.1:c.1288A>G, NM_001351632.2:c.1756A>C, NM_001351632.2:c.1756A>G, NM_001351632.1:c.1756A>C, NM_001351632.1:c.1756A>G, NM_001351618.2:c.1288A>C, NM_001351618.2:c.1288A>G, NM_001351618.1:c.1288A>C, NM_001351618.1:c.1288A>G, NM_001351614.2:c.1522A>C, NM_001351614.2:c.1522A>G, NM_001351614.1:c.1522A>C, NM_001351614.1:c.1522A>G, NM_001351617.2:c.1288A>C, NM_001351617.2:c.1288A>G, NM_001351617.1:c.1288A>C, NM_001351617.1:c.1288A>G, NM_001351620.2:c.1051A>C, NM_001351620.2:c.1051A>G, NM_001351620.1:c.1051A>C, NM_001351620.1:c.1051A>G, NM_001351610.1:c.1705A>C, NM_001351610.1:c.1705A>G, NM_001351613.1:c.1594A>C, NM_001351613.1:c.1594A>G, NM_001351616.1:c.1468A>C, NM_001351616.1:c.1468A>G, NP_009126.2:p.Ser611Arg, NP_009126.2:p.Ser611Gly, XP_024306849.1:p.Ser508Arg, XP_024306849.1:p.Ser508Gly, NP_001338541.1:p.Ser543Arg, NP_001338541.1:p.Ser543Gly, NP_001338544.1:p.Ser508Arg, NP_001338544.1:p.Ser508Gly, NP_001338540.1:p.Ser543Arg, NP_001338540.1:p.Ser543Gly, NP_001338548.1:p.Ser430Arg, NP_001338548.1:p.Ser430Gly, NP_001338561.1:p.Ser586Arg, NP_001338561.1:p.Ser586Gly, NP_001338547.1:p.Ser430Arg, NP_001338547.1:p.Ser430Gly, NP_001338543.1:p.Ser508Arg, NP_001338543.1:p.Ser508Gly, NP_001338546.1:p.Ser430Arg, NP_001338546.1:p.Ser430Gly, NP_001338549.1:p.Ser351Arg, NP_001338549.1:p.Ser351Gly, NP_001338539.1:p.Ser569Arg, NP_001338539.1:p.Ser569Gly, NP_001338542.1:p.Ser532Arg, NP_001338542.1:p.Ser532Gly, NP_001338545.1:p.Ser490Arg, NP_001338545.1:p.Ser490Gly

Select item 147639401813.

rs1476394018 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:54280772 (GRCh38)
18:51807142 (GRCh37)
Canonical SPDI:: NC_000018.10:54280771:C:T
Gene:: POLI (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.54280772C>T, NC_000018.9:g.51807142C>T, XM_005258192.5:c.665C>T, XM_005258192.4:c.665C>T, XM_005258192.3:c.665C>T, XM_005258192.2:c.665C>T, XM_005258192.1:c.665C>T, NM_007195.3:c.665C>T, NM_007195.2:c.665C>T, XM_024451081.2:c.356C>T, XM_024451081.1:c.356C>T, NM_001351612.2:c.461C>T, NM_001351612.1:c.461C>T, NM_001351615.2:c.356C>T, NM_001351615.1:c.356C>T, NM_001351611.2:c.461C>T, NM_001351611.1:c.461C>T, NM_001351619.2:c.122C>T, NM_001351619.1:c.122C>T, NM_001351632.2:c.590C>T, NM_001351632.1:c.590C>T, NM_001351618.2:c.122C>T, NM_001351618.1:c.122C>T, NM_001351614.2:c.356C>T, NM_001351614.1:c.356C>T, NM_001351617.2:c.122C>T, NM_001351617.1:c.122C>T, XM_011525797.2:c.665C>T, XM_011525797.1:c.665C>T, NM_001351610.1:c.539C>T, NR_147257.1:n.733C>T, NM_001351621.1:c.665C>T, XP_005258249.1:p.Ala222Val, NP_009126.2:p.Ala222Val, XP_024306849.1:p.Ala119Val, NP_001338541.1:p.Ala154Val, NP_001338544.1:p.Ala119Val, NP_001338540.1:p.Ala154Val, NP_001338548.1:p.Ala41Val, NP_001338561.1:p.Ala197Val, NP_001338547.1:p.Ala41Val, NP_001338543.1:p.Ala119Val, NP_001338546.1:p.Ala41Val, XP_011524099.1:p.Ala222Val, NP_001338539.1:p.Ala180Val, NP_001338550.1:p.Ala222Val

Select item 147634875514.

rs1476348755 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:54293788 (GRCh38)
18:51820158 (GRCh37)
Canonical SPDI:: NC_000018.10:54293787:T:G
Gene:: POLI (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.54293788T>G, NC_000018.9:g.51820158T>G, NM_007195.3:c.1544T>G, NM_007195.2:c.1544T>G, XM_024451081.2:c.1235T>G, XM_024451081.1:c.1235T>G, NM_001351612.2:c.1340T>G, NM_001351612.1:c.1340T>G, NM_001351615.2:c.1235T>G, NM_001351615.1:c.1235T>G, NM_001351611.2:c.1340T>G, NM_001351611.1:c.1340T>G, NM_001351619.2:c.1001T>G, NM_001351619.1:c.1001T>G, NM_001351632.2:c.1469T>G, NM_001351632.1:c.1469T>G, NM_001351618.2:c.1001T>G, NM_001351618.1:c.1001T>G, NM_001351614.2:c.1235T>G, NM_001351614.1:c.1235T>G, NM_001351617.2:c.1001T>G, NM_001351617.1:c.1001T>G, NM_001351620.2:c.764T>G, NM_001351620.1:c.764T>G, NM_001351610.1:c.1418T>G, NM_001351613.1:c.1307T>G, NM_001351616.1:c.1181T>G, NP_009126.2:p.Ile515Ser, XP_024306849.1:p.Ile412Ser, NP_001338541.1:p.Ile447Ser, NP_001338544.1:p.Ile412Ser, NP_001338540.1:p.Ile447Ser, NP_001338548.1:p.Ile334Ser, NP_001338561.1:p.Ile490Ser, NP_001338547.1:p.Ile334Ser, NP_001338543.1:p.Ile412Ser, NP_001338546.1:p.Ile334Ser, NP_001338549.1:p.Ile255Ser, NP_001338539.1:p.Ile473Ser, NP_001338542.1:p.Ile436Ser, NP_001338545.1:p.Ile394Ser

Select item 147450858215.

rs1474508582 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 18:54291920 (GRCh38)
18:51818290 (GRCh37)
Canonical SPDI:: NC_000018.10:54291919:CCC:CC
Gene:: POLI (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.54291922del, NC_000018.9:g.51818292del, NM_007195.3:c.1288del, NM_007195.2:c.1288del, XM_024451081.2:c.979del, XM_024451081.1:c.979del, NM_001351612.2:c.1084del, NM_001351612.1:c.1084del, NM_001351615.2:c.979del, NM_001351615.1:c.979del, NM_001351611.2:c.1084del, NM_001351611.1:c.1084del, NM_001351619.2:c.745del, NM_001351619.1:c.745del, NM_001351632.2:c.1213del, NM_001351632.1:c.1213del, NM_001351618.2:c.745del, NM_001351618.1:c.745del, NM_001351614.2:c.979del, NM_001351614.1:c.979del, NM_001351617.2:c.745del, NM_001351617.1:c.745del, NM_001351620.2:c.508del, NM_001351620.1:c.508del, NM_001351610.1:c.1162del, NM_001351613.1:c.1051del, NM_001351616.1:c.925del, NP_009126.2:p.Leu430fs, XP_024306849.1:p.Leu327fs, NP_001338541.1:p.Leu362fs, NP_001338544.1:p.Leu327fs, NP_001338540.1:p.Leu362fs, NP_001338548.1:p.Leu249fs, NP_001338561.1:p.Leu405fs, NP_001338547.1:p.Leu249fs, NP_001338543.1:p.Leu327fs, NP_001338546.1:p.Leu249fs, NP_001338549.1:p.Leu170fs, NP_001338539.1:p.Leu388fs, NP_001338542.1:p.Leu351fs, NP_001338545.1:p.Leu309fs

Select item 147398524116.

rs1473985241 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 18:54293730 (GRCh38)
18:51820100 (GRCh37)
Canonical SPDI:: NC_000018.10:54293729:A:C,NC_000018.10:54293729:A:G
Gene:: POLI (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000018.10:g.54293730A>C, NC_000018.10:g.54293730A>G, NC_000018.9:g.51820100A>C, NC_000018.9:g.51820100A>G, NM_007195.3:c.1486A>C, NM_007195.3:c.1486A>G, NM_007195.2:c.1486A>C, NM_007195.2:c.1486A>G, XM_024451081.2:c.1177A>C, XM_024451081.2:c.1177A>G, XM_024451081.1:c.1177A>C, XM_024451081.1:c.1177A>G, NM_001351612.2:c.1282A>C, NM_001351612.2:c.1282A>G, NM_001351612.1:c.1282A>C, NM_001351612.1:c.1282A>G, NM_001351615.2:c.1177A>C, NM_001351615.2:c.1177A>G, NM_001351615.1:c.1177A>C, NM_001351615.1:c.1177A>G, NM_001351611.2:c.1282A>C, NM_001351611.2:c.1282A>G, NM_001351611.1:c.1282A>C, NM_001351611.1:c.1282A>G, NM_001351619.2:c.943A>C, NM_001351619.2:c.943A>G, NM_001351619.1:c.943A>C, NM_001351619.1:c.943A>G, NM_001351632.2:c.1411A>C, NM_001351632.2:c.1411A>G, NM_001351632.1:c.1411A>C, NM_001351632.1:c.1411A>G, NM_001351618.2:c.943A>C, NM_001351618.2:c.943A>G, NM_001351618.1:c.943A>C, NM_001351618.1:c.943A>G, NM_001351614.2:c.1177A>C, NM_001351614.2:c.1177A>G, NM_001351614.1:c.1177A>C, NM_001351614.1:c.1177A>G, NM_001351617.2:c.943A>C, NM_001351617.2:c.943A>G, NM_001351617.1:c.943A>C, NM_001351617.1:c.943A>G, NM_001351620.2:c.706A>C, NM_001351620.2:c.706A>G, NM_001351620.1:c.706A>C, NM_001351620.1:c.706A>G, NM_001351610.1:c.1360A>C, NM_001351610.1:c.1360A>G, NM_001351613.1:c.1249A>C, NM_001351613.1:c.1249A>G, NM_001351616.1:c.1123A>C, NM_001351616.1:c.1123A>G, NP_009126.2:p.Ser496Arg, NP_009126.2:p.Ser496Gly, XP_024306849.1:p.Ser393Arg, XP_024306849.1:p.Ser393Gly, NP_001338541.1:p.Ser428Arg, NP_001338541.1:p.Ser428Gly, NP_001338544.1:p.Ser393Arg, NP_001338544.1:p.Ser393Gly, NP_001338540.1:p.Ser428Arg, NP_001338540.1:p.Ser428Gly, NP_001338548.1:p.Ser315Arg, NP_001338548.1:p.Ser315Gly, NP_001338561.1:p.Ser471Arg, NP_001338561.1:p.Ser471Gly, NP_001338547.1:p.Ser315Arg, NP_001338547.1:p.Ser315Gly, NP_001338543.1:p.Ser393Arg, NP_001338543.1:p.Ser393Gly, NP_001338546.1:p.Ser315Arg, NP_001338546.1:p.Ser315Gly, NP_001338549.1:p.Ser236Arg, NP_001338549.1:p.Ser236Gly, NP_001338539.1:p.Ser454Arg, NP_001338539.1:p.Ser454Gly, NP_001338542.1:p.Ser417Arg, NP_001338542.1:p.Ser417Gly, NP_001338545.1:p.Ser375Arg, NP_001338545.1:p.Ser375Gly

Select item 147300189617.

rs1473001896 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:54294115 (GRCh38)
18:51820485 (GRCh37)
Canonical SPDI:: NC_000018.10:54294114:A:G
Gene:: POLI (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.54294115A>G, NC_000018.9:g.51820485A>G, NM_007195.3:c.1871A>G, NM_007195.2:c.1871A>G, XM_024451081.2:c.1562A>G, XM_024451081.1:c.1562A>G, NM_001351612.2:c.1667A>G, NM_001351612.1:c.1667A>G, NM_001351615.2:c.1562A>G, NM_001351615.1:c.1562A>G, NM_001351611.2:c.1667A>G, NM_001351611.1:c.1667A>G, NM_001351619.2:c.1328A>G, NM_001351619.1:c.1328A>G, NM_001351632.2:c.1796A>G, NM_001351632.1:c.1796A>G, NM_001351618.2:c.1328A>G, NM_001351618.1:c.1328A>G, NM_001351614.2:c.1562A>G, NM_001351614.1:c.1562A>G, NM_001351617.2:c.1328A>G, NM_001351617.1:c.1328A>G, NM_001351620.2:c.1091A>G, NM_001351620.1:c.1091A>G, NM_001351610.1:c.1745A>G, NM_001351613.1:c.1634A>G, NM_001351616.1:c.1508A>G, NP_009126.2:p.Tyr624Cys, XP_024306849.1:p.Tyr521Cys, NP_001338541.1:p.Tyr556Cys, NP_001338544.1:p.Tyr521Cys, NP_001338540.1:p.Tyr556Cys, NP_001338548.1:p.Tyr443Cys, NP_001338561.1:p.Tyr599Cys, NP_001338547.1:p.Tyr443Cys, NP_001338543.1:p.Tyr521Cys, NP_001338546.1:p.Tyr443Cys, NP_001338549.1:p.Tyr364Cys, NP_001338539.1:p.Tyr582Cys, NP_001338542.1:p.Tyr545Cys, NP_001338545.1:p.Tyr503Cys

Select item 147254602418.

rs1472546024 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:54294128 (GRCh38)
18:51820498 (GRCh37)
Canonical SPDI:: NC_000018.10:54294127:A:G
Gene:: POLI (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.54294128A>G, NC_000018.9:g.51820498A>G, NM_007195.3:c.1884A>G, NM_007195.2:c.1884A>G, XM_024451081.2:c.1575A>G, XM_024451081.1:c.1575A>G, NM_001351612.2:c.1680A>G, NM_001351612.1:c.1680A>G, NM_001351615.2:c.1575A>G, NM_001351615.1:c.1575A>G, NM_001351611.2:c.1680A>G, NM_001351611.1:c.1680A>G, NM_001351619.2:c.1341A>G, NM_001351619.1:c.1341A>G, NM_001351632.2:c.1809A>G, NM_001351632.1:c.1809A>G, NM_001351618.2:c.1341A>G, NM_001351618.1:c.1341A>G, NM_001351614.2:c.1575A>G, NM_001351614.1:c.1575A>G, NM_001351617.2:c.1341A>G, NM_001351617.1:c.1341A>G, NM_001351620.2:c.1104A>G, NM_001351620.1:c.1104A>G, NM_001351610.1:c.1758A>G, NM_001351613.1:c.1647A>G, NM_001351616.1:c.1521A>G

Select item 147245184819.

rs1472451848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 18:54294300 (GRCh38)
18:51820670 (GRCh37)
Canonical SPDI:: NC_000018.10:54294299:C:A,NC_000018.10:54294299:C:G
Gene:: POLI (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
A=0.000212/4 (TOMMO)
HGVS:: NC_000018.10:g.54294300C>A, NC_000018.10:g.54294300C>G, NC_000018.9:g.51820670C>A, NC_000018.9:g.51820670C>G, NM_007195.3:c.2056C>A, NM_007195.3:c.2056C>G, NM_007195.2:c.2056C>A, NM_007195.2:c.2056C>G, XM_024451081.2:c.1747C>A, XM_024451081.2:c.1747C>G, XM_024451081.1:c.1747C>A, XM_024451081.1:c.1747C>G, NM_001351612.2:c.1852C>A, NM_001351612.2:c.1852C>G, NM_001351612.1:c.1852C>A, NM_001351612.1:c.1852C>G, NM_001351615.2:c.1747C>A, NM_001351615.2:c.1747C>G, NM_001351615.1:c.1747C>A, NM_001351615.1:c.1747C>G, NM_001351611.2:c.1852C>A, NM_001351611.2:c.1852C>G, NM_001351611.1:c.1852C>A, NM_001351611.1:c.1852C>G, NM_001351619.2:c.1513C>A, NM_001351619.2:c.1513C>G, NM_001351619.1:c.1513C>A, NM_001351619.1:c.1513C>G, NM_001351632.2:c.1981C>A, NM_001351632.2:c.1981C>G, NM_001351632.1:c.1981C>A, NM_001351632.1:c.1981C>G, NM_001351618.2:c.1513C>A, NM_001351618.2:c.1513C>G, NM_001351618.1:c.1513C>A, NM_001351618.1:c.1513C>G, NM_001351614.2:c.1747C>A, NM_001351614.2:c.1747C>G, NM_001351614.1:c.1747C>A, NM_001351614.1:c.1747C>G, NM_001351617.2:c.1513C>A, NM_001351617.2:c.1513C>G, NM_001351617.1:c.1513C>A, NM_001351617.1:c.1513C>G, NM_001351620.2:c.1276C>A, NM_001351620.2:c.1276C>G, NM_001351620.1:c.1276C>A, NM_001351620.1:c.1276C>G, NM_001351610.1:c.1930C>A, NM_001351610.1:c.1930C>G, NM_001351613.1:c.1819C>A, NM_001351613.1:c.1819C>G, NM_001351616.1:c.1693C>A, NM_001351616.1:c.1693C>G, NP_009126.2:p.His686Asn, NP_009126.2:p.His686Asp, XP_024306849.1:p.His583Asn, XP_024306849.1:p.His583Asp, NP_001338541.1:p.His618Asn, NP_001338541.1:p.His618Asp, NP_001338544.1:p.His583Asn, NP_001338544.1:p.His583Asp, NP_001338540.1:p.His618Asn, NP_001338540.1:p.His618Asp, NP_001338548.1:p.His505Asn, NP_001338548.1:p.His505Asp, NP_001338561.1:p.His661Asn, NP_001338561.1:p.His661Asp, NP_001338547.1:p.His505Asn, NP_001338547.1:p.His505Asp, NP_001338543.1:p.His583Asn, NP_001338543.1:p.His583Asp, NP_001338546.1:p.His505Asn, NP_001338546.1:p.His505Asp, NP_001338549.1:p.His426Asn, NP_001338549.1:p.His426Asp, NP_001338539.1:p.His644Asn, NP_001338539.1:p.His644Asp, NP_001338542.1:p.His607Asn, NP_001338542.1:p.His607Asp, NP_001338545.1:p.His565Asn, NP_001338545.1:p.His565Asp

Select item 146854135920.

rs1468541359 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:54280727 (GRCh38)
18:51807097 (GRCh37)
Canonical SPDI:: NC_000018.10:54280726:A:G
Gene:: POLI (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000018.10:g.54280727A>G, NC_000018.9:g.51807097A>G, XM_005258192.5:c.620A>G, XM_005258192.4:c.620A>G, XM_005258192.3:c.620A>G, XM_005258192.2:c.620A>G, XM_005258192.1:c.620A>G, NM_007195.3:c.620A>G, NM_007195.2:c.620A>G, XM_024451081.2:c.311A>G, XM_024451081.1:c.311A>G, NM_001351612.2:c.416A>G, NM_001351612.1:c.416A>G, NM_001351615.2:c.311A>G, NM_001351615.1:c.311A>G, NM_001351611.2:c.416A>G, NM_001351611.1:c.416A>G, NM_001351619.2:c.77A>G, NM_001351619.1:c.77A>G, NM_001351632.2:c.545A>G, NM_001351632.1:c.545A>G, NM_001351618.2:c.77A>G, NM_001351618.1:c.77A>G, NM_001351614.2:c.311A>G, NM_001351614.1:c.311A>G, NM_001351617.2:c.77A>G, NM_001351617.1:c.77A>G, XM_011525797.2:c.620A>G, XM_011525797.1:c.620A>G, NM_001351610.1:c.494A>G, NR_147257.1:n.688A>G, NM_001351621.1:c.620A>G, XP_005258249.1:p.Glu207Gly, NP_009126.2:p.Glu207Gly, XP_024306849.1:p.Glu104Gly, NP_001338541.1:p.Glu139Gly, NP_001338544.1:p.Glu104Gly, NP_001338540.1:p.Glu139Gly, NP_001338548.1:p.Glu26Gly, NP_001338561.1:p.Glu182Gly, NP_001338547.1:p.Glu26Gly, NP_001338543.1:p.Glu104Gly, NP_001338546.1:p.Glu26Gly, XP_011524099.1:p.Glu207Gly, NP_001338539.1:p.Glu165Gly, NP_001338550.1:p.Glu207Gly

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