SNP Links for Protein (Select 1016840992) - SNP

Links from Protein

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Select item 14825464131.

rs1482546413 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:99412676 (GRCh38)
6:99860552 (GRCh37)
Canonical SPDI:: NC_000006.12:99412675:T:C
Gene:: PNISR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.99412676T>C, NC_000006.11:g.99860552T>C, XM_005266912.5:c.152A>G, XM_005266912.4:c.341A>G, XM_005266912.3:c.152A>G, XM_005266912.2:c.341A>G, XM_005266912.1:c.341A>G, NM_032870.4:c.152A>G, NM_032870.3:c.152A>G, NM_032870.2:c.152A>G, NM_015491.3:c.152A>G, NM_015491.2:c.152A>G, NM_015491.1:c.152A>G, NR_136326.2:n.277A>G, NR_136326.1:n.314A>G, NM_001322406.2:c.152A>G, NM_001322406.1:c.152A>G, NM_001322405.2:c.152A>G, NM_001322405.1:c.152A>G, NM_001322414.2:c.152A>G, NM_001322414.1:c.152A>G, NM_001322408.2:c.152A>G, NM_001322408.1:c.152A>G, NM_001322415.2:c.152A>G, NM_001322415.1:c.152A>G, NM_001322410.2:c.152A>G, NM_001322410.1:c.152A>G, NM_001322412.2:c.152A>G, NM_001322412.1:c.152A>G, NM_001322413.2:c.152A>G, NM_001322413.1:c.152A>G, NM_001322416.2:c.152A>G, NM_001322416.1:c.152A>G, NM_001322419.2:c.152A>G, NM_001322419.1:c.152A>G, NM_001322418.2:c.152A>G, NM_001322418.1:c.152A>G, NM_001322417.2:c.152A>G, NM_001322417.1:c.152A>G, XP_005266969.4:p.Gln51Arg, NP_116259.2:p.Gln51Arg, NP_056306.1:p.Gln51Arg, NP_001309335.1:p.Gln51Arg, NP_001309334.1:p.Gln51Arg, NP_001309343.1:p.Gln51Arg, NP_001309337.1:p.Gln51Arg, NP_001309344.1:p.Gln51Arg, NP_001309339.1:p.Gln51Arg, NP_001309341.1:p.Gln51Arg, NP_001309342.1:p.Gln51Arg, NP_001309345.1:p.Gln51Arg, NP_001309348.1:p.Gln51Arg, NP_001309347.1:p.Gln51Arg, NP_001309346.1:p.Gln51Arg

Select item 14752658342.

rs1475265834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:99410782 (GRCh38)
6:99858658 (GRCh37)
Canonical SPDI:: NC_000006.12:99410781:C:T
Gene:: PNISR (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.99410782C>T, NC_000006.11:g.99858658C>T, XM_005266912.5:c.460G>A, XM_005266912.4:c.649G>A, XM_005266912.3:c.460G>A, XM_005266912.2:c.649G>A, XM_005266912.1:c.649G>A, NM_032870.4:c.460G>A, NM_032870.3:c.460G>A, NM_032870.2:c.460G>A, NM_015491.3:c.460G>A, NM_015491.2:c.460G>A, NM_015491.1:c.460G>A, NR_136326.2:n.585G>A, NR_136326.1:n.622G>A, NM_001322406.2:c.460G>A, NM_001322406.1:c.460G>A, NM_001322405.2:c.460G>A, NM_001322405.1:c.460G>A, NM_001322414.2:c.460G>A, NM_001322414.1:c.460G>A, NM_001322408.2:c.460G>A, NM_001322408.1:c.460G>A, NM_001322415.2:c.460G>A, NM_001322415.1:c.460G>A, NM_001322410.2:c.460G>A, NM_001322410.1:c.460G>A, NM_001322412.2:c.460G>A, NM_001322412.1:c.460G>A, NM_001322413.2:c.460G>A, NM_001322413.1:c.460G>A, NM_001322416.2:c.460G>A, NM_001322416.1:c.460G>A, NM_001322419.2:c.*1532G>A, NM_001322419.1:c.*1532G>A, NM_001322418.2:c.*1532G>A, NM_001322418.1:c.*1532G>A, NM_001322417.2:c.460G>A, NM_001322417.1:c.460G>A, XP_005266969.4:p.Asp154Asn, NP_116259.2:p.Asp154Asn, NP_056306.1:p.Asp154Asn, NP_001309335.1:p.Asp154Asn, NP_001309334.1:p.Asp154Asn, NP_001309343.1:p.Asp154Asn, NP_001309337.1:p.Asp154Asn, NP_001309344.1:p.Asp154Asn, NP_001309339.1:p.Asp154Asn, NP_001309341.1:p.Asp154Asn, NP_001309342.1:p.Asp154Asn, NP_001309345.1:p.Asp154Asn, NP_001309346.1:p.Asp154Asn

Select item 14752516783.

rs1475251678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:99410867 (GRCh38)
6:99858743 (GRCh37)
Canonical SPDI:: NC_000006.12:99410866:G:A
Gene:: PNISR (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.99410867G>A, NC_000006.11:g.99858743G>A, XM_005266912.5:c.375C>T, XM_005266912.4:c.564C>T, XM_005266912.3:c.375C>T, XM_005266912.2:c.564C>T, XM_005266912.1:c.564C>T, NM_032870.4:c.375C>T, NM_032870.3:c.375C>T, NM_032870.2:c.375C>T, NM_015491.3:c.375C>T, NM_015491.2:c.375C>T, NM_015491.1:c.375C>T, NR_136326.2:n.500C>T, NR_136326.1:n.537C>T, NM_001322406.2:c.375C>T, NM_001322406.1:c.375C>T, NM_001322405.2:c.375C>T, NM_001322405.1:c.375C>T, NM_001322414.2:c.375C>T, NM_001322414.1:c.375C>T, NM_001322408.2:c.375C>T, NM_001322408.1:c.375C>T, NM_001322415.2:c.375C>T, NM_001322415.1:c.375C>T, NM_001322410.2:c.375C>T, NM_001322410.1:c.375C>T, NM_001322412.2:c.375C>T, NM_001322412.1:c.375C>T, NM_001322413.2:c.375C>T, NM_001322413.1:c.375C>T, NM_001322416.2:c.375C>T, NM_001322416.1:c.375C>T, NM_001322419.2:c.*1447C>T, NM_001322419.1:c.*1447C>T, NM_001322418.2:c.*1447C>T, NM_001322418.1:c.*1447C>T, NM_001322417.2:c.375C>T, NM_001322417.1:c.375C>T

Select item 14647721654.

rs1464772165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:99414638 (GRCh38)
6:99862514 (GRCh37)
Canonical SPDI:: NC_000006.12:99414637:G:T
Gene:: PNISR (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.99414638G>T, NC_000006.11:g.99862514G>T, XM_005266912.5:c.22C>A, XM_005266912.4:c.211C>A, XM_005266912.3:c.22C>A, XM_005266912.2:c.211C>A, XM_005266912.1:c.211C>A, NM_032870.4:c.22C>A, NM_032870.3:c.22C>A, NM_032870.2:c.22C>A, NM_015491.3:c.22C>A, NM_015491.2:c.22C>A, NM_015491.1:c.22C>A, NR_136326.2:n.147C>A, NR_136326.1:n.184C>A, NM_001322406.2:c.22C>A, NM_001322406.1:c.22C>A, NM_001322405.2:c.22C>A, NM_001322405.1:c.22C>A, NM_001322414.2:c.22C>A, NM_001322414.1:c.22C>A, NM_001322408.2:c.22C>A, NM_001322408.1:c.22C>A, NM_001322415.2:c.22C>A, NM_001322415.1:c.22C>A, NM_001322410.2:c.22C>A, NM_001322410.1:c.22C>A, NM_001322412.2:c.22C>A, NM_001322412.1:c.22C>A, NM_001322413.2:c.22C>A, NM_001322413.1:c.22C>A, NM_001322416.2:c.22C>A, NM_001322416.1:c.22C>A, NM_001322419.2:c.22C>A, NM_001322419.1:c.22C>A, NM_001322418.2:c.22C>A, NM_001322418.1:c.22C>A, NM_001322417.2:c.22C>A, NM_001322417.1:c.22C>A, XP_005266969.4:p.Pro8Thr, NP_116259.2:p.Pro8Thr, NP_056306.1:p.Pro8Thr, NP_001309335.1:p.Pro8Thr, NP_001309334.1:p.Pro8Thr, NP_001309343.1:p.Pro8Thr, NP_001309337.1:p.Pro8Thr, NP_001309344.1:p.Pro8Thr, NP_001309339.1:p.Pro8Thr, NP_001309341.1:p.Pro8Thr, NP_001309342.1:p.Pro8Thr, NP_001309345.1:p.Pro8Thr, NP_001309348.1:p.Pro8Thr, NP_001309347.1:p.Pro8Thr, NP_001309346.1:p.Pro8Thr

Select item 14621457225.

rs1462145722 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:99410875 (GRCh38)
6:99858751 (GRCh37)
Canonical SPDI:: NC_000006.12:99410874:A:G
Gene:: PNISR (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.99410875A>G, NC_000006.11:g.99858751A>G, XM_005266912.5:c.367T>C, XM_005266912.4:c.556T>C, XM_005266912.3:c.367T>C, XM_005266912.2:c.556T>C, XM_005266912.1:c.556T>C, NM_032870.4:c.367T>C, NM_032870.3:c.367T>C, NM_032870.2:c.367T>C, NM_015491.3:c.367T>C, NM_015491.2:c.367T>C, NM_015491.1:c.367T>C, NR_136326.2:n.492T>C, NR_136326.1:n.529T>C, NM_001322406.2:c.367T>C, NM_001322406.1:c.367T>C, NM_001322405.2:c.367T>C, NM_001322405.1:c.367T>C, NM_001322414.2:c.367T>C, NM_001322414.1:c.367T>C, NM_001322408.2:c.367T>C, NM_001322408.1:c.367T>C, NM_001322415.2:c.367T>C, NM_001322415.1:c.367T>C, NM_001322410.2:c.367T>C, NM_001322410.1:c.367T>C, NM_001322412.2:c.367T>C, NM_001322412.1:c.367T>C, NM_001322413.2:c.367T>C, NM_001322413.1:c.367T>C, NM_001322416.2:c.367T>C, NM_001322416.1:c.367T>C, NM_001322419.2:c.*1439T>C, NM_001322419.1:c.*1439T>C, NM_001322418.2:c.*1439T>C, NM_001322418.1:c.*1439T>C, NM_001322417.2:c.367T>C, NM_001322417.1:c.367T>C, XP_005266969.4:p.Ser123Pro, NP_116259.2:p.Ser123Pro, NP_056306.1:p.Ser123Pro, NP_001309335.1:p.Ser123Pro, NP_001309334.1:p.Ser123Pro, NP_001309343.1:p.Ser123Pro, NP_001309337.1:p.Ser123Pro, NP_001309344.1:p.Ser123Pro, NP_001309339.1:p.Ser123Pro, NP_001309341.1:p.Ser123Pro, NP_001309342.1:p.Ser123Pro, NP_001309345.1:p.Ser123Pro, NP_001309346.1:p.Ser123Pro

Select item 14574778216.

rs1457477821 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:99412661 (GRCh38)
6:99860537 (GRCh37)
Canonical SPDI:: NC_000006.12:99412660:T:G
Gene:: PNISR (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.99412661T>G, NC_000006.11:g.99860537T>G, XM_005266912.5:c.167A>C, XM_005266912.4:c.356A>C, XM_005266912.3:c.167A>C, XM_005266912.2:c.356A>C, XM_005266912.1:c.356A>C, NM_032870.4:c.167A>C, NM_032870.3:c.167A>C, NM_032870.2:c.167A>C, NM_015491.3:c.167A>C, NM_015491.2:c.167A>C, NM_015491.1:c.167A>C, NR_136326.2:n.292A>C, NR_136326.1:n.329A>C, NM_001322406.2:c.167A>C, NM_001322406.1:c.167A>C, NM_001322405.2:c.167A>C, NM_001322405.1:c.167A>C, NM_001322414.2:c.167A>C, NM_001322414.1:c.167A>C, NM_001322408.2:c.167A>C, NM_001322408.1:c.167A>C, NM_001322415.2:c.167A>C, NM_001322415.1:c.167A>C, NM_001322410.2:c.167A>C, NM_001322410.1:c.167A>C, NM_001322412.2:c.167A>C, NM_001322412.1:c.167A>C, NM_001322413.2:c.167A>C, NM_001322413.1:c.167A>C, NM_001322416.2:c.167A>C, NM_001322416.1:c.167A>C, NM_001322419.2:c.167A>C, NM_001322419.1:c.167A>C, NM_001322418.2:c.167A>C, NM_001322418.1:c.167A>C, NM_001322417.2:c.167A>C, NM_001322417.1:c.167A>C, XP_005266969.4:p.Gln56Pro, NP_116259.2:p.Gln56Pro, NP_056306.1:p.Gln56Pro, NP_001309335.1:p.Gln56Pro, NP_001309334.1:p.Gln56Pro, NP_001309343.1:p.Gln56Pro, NP_001309337.1:p.Gln56Pro, NP_001309344.1:p.Gln56Pro, NP_001309339.1:p.Gln56Pro, NP_001309341.1:p.Gln56Pro, NP_001309342.1:p.Gln56Pro, NP_001309345.1:p.Gln56Pro, NP_001309348.1:p.Gln56Pro, NP_001309347.1:p.Gln56Pro, NP_001309346.1:p.Gln56Pro

Select item 14344072847.

rs1434407284 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:99412604 (GRCh38)
6:99860480 (GRCh37)
Canonical SPDI:: NC_000006.12:99412603:T:A
Gene:: PNISR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.99412604T>A, NC_000006.11:g.99860480T>A, XM_005266912.5:c.224A>T, XM_005266912.4:c.413A>T, XM_005266912.3:c.224A>T, XM_005266912.2:c.413A>T, XM_005266912.1:c.413A>T, NM_032870.4:c.224A>T, NM_032870.3:c.224A>T, NM_032870.2:c.224A>T, NM_015491.3:c.224A>T, NM_015491.2:c.224A>T, NM_015491.1:c.224A>T, NR_136326.2:n.349A>T, NR_136326.1:n.386A>T, NM_001322406.2:c.224A>T, NM_001322406.1:c.224A>T, NM_001322405.2:c.224A>T, NM_001322405.1:c.224A>T, NM_001322414.2:c.224A>T, NM_001322414.1:c.224A>T, NM_001322408.2:c.224A>T, NM_001322408.1:c.224A>T, NM_001322415.2:c.224A>T, NM_001322415.1:c.224A>T, NM_001322410.2:c.224A>T, NM_001322410.1:c.224A>T, NM_001322412.2:c.224A>T, NM_001322412.1:c.224A>T, NM_001322413.2:c.224A>T, NM_001322413.1:c.224A>T, NM_001322416.2:c.224A>T, NM_001322416.1:c.224A>T, NM_001322419.2:c.224A>T, NM_001322419.1:c.224A>T, NM_001322418.2:c.224A>T, NM_001322418.1:c.224A>T, NM_001322417.2:c.224A>T, NM_001322417.1:c.224A>T, XP_005266969.4:p.Asn75Ile, NP_116259.2:p.Asn75Ile, NP_056306.1:p.Asn75Ile, NP_001309335.1:p.Asn75Ile, NP_001309334.1:p.Asn75Ile, NP_001309343.1:p.Asn75Ile, NP_001309337.1:p.Asn75Ile, NP_001309344.1:p.Asn75Ile, NP_001309339.1:p.Asn75Ile, NP_001309341.1:p.Asn75Ile, NP_001309342.1:p.Asn75Ile, NP_001309345.1:p.Asn75Ile, NP_001309348.1:p.Asn75Ile, NP_001309347.1:p.Asn75Ile, NP_001309346.1:p.Asn75Ile

Select item 14109174598.

rs1410917459 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:99410798 (GRCh38)
6:99858674 (GRCh37)
Canonical SPDI:: NC_000006.12:99410797:G:C
Gene:: PNISR (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.99410798G>C, NC_000006.11:g.99858674G>C, XM_005266912.5:c.444C>G, XM_005266912.4:c.633C>G, XM_005266912.3:c.444C>G, XM_005266912.2:c.633C>G, XM_005266912.1:c.633C>G, NM_032870.4:c.444C>G, NM_032870.3:c.444C>G, NM_032870.2:c.444C>G, NM_015491.3:c.444C>G, NM_015491.2:c.444C>G, NM_015491.1:c.444C>G, NR_136326.2:n.569C>G, NR_136326.1:n.606C>G, NM_001322406.2:c.444C>G, NM_001322406.1:c.444C>G, NM_001322405.2:c.444C>G, NM_001322405.1:c.444C>G, NM_001322414.2:c.444C>G, NM_001322414.1:c.444C>G, NM_001322408.2:c.444C>G, NM_001322408.1:c.444C>G, NM_001322415.2:c.444C>G, NM_001322415.1:c.444C>G, NM_001322410.2:c.444C>G, NM_001322410.1:c.444C>G, NM_001322412.2:c.444C>G, NM_001322412.1:c.444C>G, NM_001322413.2:c.444C>G, NM_001322413.1:c.444C>G, NM_001322416.2:c.444C>G, NM_001322416.1:c.444C>G, NM_001322419.2:c.*1516C>G, NM_001322419.1:c.*1516C>G, NM_001322418.2:c.*1516C>G, NM_001322418.1:c.*1516C>G, NM_001322417.2:c.444C>G, NM_001322417.1:c.444C>G, XP_005266969.4:p.Asn148Lys, NP_116259.2:p.Asn148Lys, NP_056306.1:p.Asn148Lys, NP_001309335.1:p.Asn148Lys, NP_001309334.1:p.Asn148Lys, NP_001309343.1:p.Asn148Lys, NP_001309337.1:p.Asn148Lys, NP_001309344.1:p.Asn148Lys, NP_001309339.1:p.Asn148Lys, NP_001309341.1:p.Asn148Lys, NP_001309342.1:p.Asn148Lys, NP_001309345.1:p.Asn148Lys, NP_001309346.1:p.Asn148Lys

Select item 14067546669.

rs1406754666 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:99410907 (GRCh38)
6:99858783 (GRCh37)
Canonical SPDI:: NC_000006.12:99410906:G:A,NC_000006.12:99410906:G:C
Gene:: PNISR (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.99410907G>A, NC_000006.12:g.99410907G>C, NC_000006.11:g.99858783G>A, NC_000006.11:g.99858783G>C, XM_005266912.5:c.335C>T, XM_005266912.5:c.335C>G, XM_005266912.4:c.524C>T, XM_005266912.4:c.524C>G, XM_005266912.3:c.335C>T, XM_005266912.3:c.335C>G, XM_005266912.2:c.524C>T, XM_005266912.2:c.524C>G, XM_005266912.1:c.524C>T, XM_005266912.1:c.524C>G, NM_032870.4:c.335C>T, NM_032870.4:c.335C>G, NM_032870.3:c.335C>T, NM_032870.3:c.335C>G, NM_032870.2:c.335C>T, NM_032870.2:c.335C>G, NM_015491.3:c.335C>T, NM_015491.3:c.335C>G, NM_015491.2:c.335C>T, NM_015491.2:c.335C>G, NM_015491.1:c.335C>T, NM_015491.1:c.335C>G, NR_136326.2:n.460C>T, NR_136326.2:n.460C>G, NR_136326.1:n.497C>T, NR_136326.1:n.497C>G, NM_001322406.2:c.335C>T, NM_001322406.2:c.335C>G, NM_001322406.1:c.335C>T, NM_001322406.1:c.335C>G, NM_001322405.2:c.335C>T, NM_001322405.2:c.335C>G, NM_001322405.1:c.335C>T, NM_001322405.1:c.335C>G, NM_001322414.2:c.335C>T, NM_001322414.2:c.335C>G, NM_001322414.1:c.335C>T, NM_001322414.1:c.335C>G, NM_001322408.2:c.335C>T, NM_001322408.2:c.335C>G, NM_001322408.1:c.335C>T, NM_001322408.1:c.335C>G, NM_001322415.2:c.335C>T, NM_001322415.2:c.335C>G, NM_001322415.1:c.335C>T, NM_001322415.1:c.335C>G, NM_001322410.2:c.335C>T, NM_001322410.2:c.335C>G, NM_001322410.1:c.335C>T, NM_001322410.1:c.335C>G, NM_001322412.2:c.335C>T, NM_001322412.2:c.335C>G, NM_001322412.1:c.335C>T, NM_001322412.1:c.335C>G, NM_001322413.2:c.335C>T, NM_001322413.2:c.335C>G, NM_001322413.1:c.335C>T, NM_001322413.1:c.335C>G, NM_001322416.2:c.335C>T, NM_001322416.2:c.335C>G, NM_001322416.1:c.335C>T, NM_001322416.1:c.335C>G, NM_001322419.2:c.*1407C>T, NM_001322419.2:c.*1407C>G, NM_001322419.1:c.*1407C>T, NM_001322419.1:c.*1407C>G, NM_001322418.2:c.*1407C>T, NM_001322418.2:c.*1407C>G, NM_001322418.1:c.*1407C>T, NM_001322418.1:c.*1407C>G, NM_001322417.2:c.335C>T, NM_001322417.2:c.335C>G, NM_001322417.1:c.335C>T, NM_001322417.1:c.335C>G, XP_005266969.4:p.Pro112Leu, XP_005266969.4:p.Pro112Arg, NP_116259.2:p.Pro112Leu, NP_116259.2:p.Pro112Arg, NP_056306.1:p.Pro112Leu, NP_056306.1:p.Pro112Arg, NP_001309335.1:p.Pro112Leu, NP_001309335.1:p.Pro112Arg, NP_001309334.1:p.Pro112Leu, NP_001309334.1:p.Pro112Arg, NP_001309343.1:p.Pro112Leu, NP_001309343.1:p.Pro112Arg, NP_001309337.1:p.Pro112Leu, NP_001309337.1:p.Pro112Arg, NP_001309344.1:p.Pro112Leu, NP_001309344.1:p.Pro112Arg, NP_001309339.1:p.Pro112Leu, NP_001309339.1:p.Pro112Arg, NP_001309341.1:p.Pro112Leu, NP_001309341.1:p.Pro112Arg, NP_001309342.1:p.Pro112Leu, NP_001309342.1:p.Pro112Arg, NP_001309345.1:p.Pro112Leu, NP_001309345.1:p.Pro112Arg, NP_001309346.1:p.Pro112Leu, NP_001309346.1:p.Pro112Arg

Select item 140211305910.

rs1402113059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:99410936 (GRCh38)
6:99858812 (GRCh37)
Canonical SPDI:: NC_000006.12:99410935:G:A
Gene:: PNISR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.99410936G>A, NC_000006.11:g.99858812G>A, XM_005266912.5:c.306C>T, XM_005266912.4:c.495C>T, XM_005266912.3:c.306C>T, XM_005266912.2:c.495C>T, XM_005266912.1:c.495C>T, NM_032870.4:c.306C>T, NM_032870.3:c.306C>T, NM_032870.2:c.306C>T, NM_015491.3:c.306C>T, NM_015491.2:c.306C>T, NM_015491.1:c.306C>T, NR_136326.2:n.431C>T, NR_136326.1:n.468C>T, NM_001322406.2:c.306C>T, NM_001322406.1:c.306C>T, NM_001322405.2:c.306C>T, NM_001322405.1:c.306C>T, NM_001322414.2:c.306C>T, NM_001322414.1:c.306C>T, NM_001322408.2:c.306C>T, NM_001322408.1:c.306C>T, NM_001322415.2:c.306C>T, NM_001322415.1:c.306C>T, NM_001322410.2:c.306C>T, NM_001322410.1:c.306C>T, NM_001322412.2:c.306C>T, NM_001322412.1:c.306C>T, NM_001322413.2:c.306C>T, NM_001322413.1:c.306C>T, NM_001322416.2:c.306C>T, NM_001322416.1:c.306C>T, NM_001322419.2:c.*1378C>T, NM_001322419.1:c.*1378C>T, NM_001322418.2:c.*1378C>T, NM_001322418.1:c.*1378C>T, NM_001322417.2:c.306C>T, NM_001322417.1:c.306C>T

Select item 138821540011.

rs1388215400 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:99412636 (GRCh38)
6:99860512 (GRCh37)
Canonical SPDI:: NC_000006.12:99412635:T:A
Gene:: PNISR (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000023/6 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000006.12:g.99412636T>A, NC_000006.11:g.99860512T>A, XM_005266912.5:c.192A>T, XM_005266912.4:c.381A>T, XM_005266912.3:c.192A>T, XM_005266912.2:c.381A>T, XM_005266912.1:c.381A>T, NM_032870.4:c.192A>T, NM_032870.3:c.192A>T, NM_032870.2:c.192A>T, NM_015491.3:c.192A>T, NM_015491.2:c.192A>T, NM_015491.1:c.192A>T, NR_136326.2:n.317A>T, NR_136326.1:n.354A>T, NM_001322406.2:c.192A>T, NM_001322406.1:c.192A>T, NM_001322405.2:c.192A>T, NM_001322405.1:c.192A>T, NM_001322414.2:c.192A>T, NM_001322414.1:c.192A>T, NM_001322408.2:c.192A>T, NM_001322408.1:c.192A>T, NM_001322415.2:c.192A>T, NM_001322415.1:c.192A>T, NM_001322410.2:c.192A>T, NM_001322410.1:c.192A>T, NM_001322412.2:c.192A>T, NM_001322412.1:c.192A>T, NM_001322413.2:c.192A>T, NM_001322413.1:c.192A>T, NM_001322416.2:c.192A>T, NM_001322416.1:c.192A>T, NM_001322419.2:c.192A>T, NM_001322419.1:c.192A>T, NM_001322418.2:c.192A>T, NM_001322418.1:c.192A>T, NM_001322417.2:c.192A>T, NM_001322417.1:c.192A>T

Select item 138648399512.

rs1386483995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:99412567 (GRCh38)
6:99860443 (GRCh37)
Canonical SPDI:: NC_000006.12:99412566:G:T
Gene:: PNISR (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.99412567G>T, NC_000006.11:g.99860443G>T, XM_005266912.5:c.261C>A, XM_005266912.4:c.450C>A, XM_005266912.3:c.261C>A, XM_005266912.2:c.450C>A, XM_005266912.1:c.450C>A, NM_032870.4:c.261C>A, NM_032870.3:c.261C>A, NM_032870.2:c.261C>A, NM_015491.3:c.261C>A, NM_015491.2:c.261C>A, NM_015491.1:c.261C>A, NR_136326.2:n.386C>A, NR_136326.1:n.423C>A, NM_001322406.2:c.261C>A, NM_001322406.1:c.261C>A, NM_001322405.2:c.261C>A, NM_001322405.1:c.261C>A, NM_001322414.2:c.261C>A, NM_001322414.1:c.261C>A, NM_001322408.2:c.261C>A, NM_001322408.1:c.261C>A, NM_001322415.2:c.261C>A, NM_001322415.1:c.261C>A, NM_001322410.2:c.261C>A, NM_001322410.1:c.261C>A, NM_001322412.2:c.261C>A, NM_001322412.1:c.261C>A, NM_001322413.2:c.261C>A, NM_001322413.1:c.261C>A, NM_001322416.2:c.261C>A, NM_001322416.1:c.261C>A, NM_001322419.2:c.261C>A, NM_001322419.1:c.261C>A, NM_001322418.2:c.261C>A, NM_001322418.1:c.261C>A, NM_001322417.2:c.261C>A, NM_001322417.1:c.261C>A, XP_005266969.4:p.Asn87Lys, NP_116259.2:p.Asn87Lys, NP_056306.1:p.Asn87Lys, NP_001309335.1:p.Asn87Lys, NP_001309334.1:p.Asn87Lys, NP_001309343.1:p.Asn87Lys, NP_001309337.1:p.Asn87Lys, NP_001309344.1:p.Asn87Lys, NP_001309339.1:p.Asn87Lys, NP_001309341.1:p.Asn87Lys, NP_001309342.1:p.Asn87Lys, NP_001309345.1:p.Asn87Lys, NP_001309348.1:p.Asn87Lys, NP_001309347.1:p.Asn87Lys, NP_001309346.1:p.Asn87Lys

Select item 138612582913.

rs1386125829 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:99410866 (GRCh38)
6:99858742 (GRCh37)
Canonical SPDI:: NC_000006.12:99410865:T:C
Gene:: PNISR (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,missense_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_000006.12:g.99410866T>C, NC_000006.11:g.99858742T>C, XM_005266912.5:c.376A>G, XM_005266912.4:c.565A>G, XM_005266912.3:c.376A>G, XM_005266912.2:c.565A>G, XM_005266912.1:c.565A>G, NM_032870.4:c.376A>G, NM_032870.3:c.376A>G, NM_032870.2:c.376A>G, NM_015491.3:c.376A>G, NM_015491.2:c.376A>G, NM_015491.1:c.376A>G, NR_136326.2:n.501A>G, NR_136326.1:n.538A>G, NM_001322406.2:c.376A>G, NM_001322406.1:c.376A>G, NM_001322405.2:c.376A>G, NM_001322405.1:c.376A>G, NM_001322414.2:c.376A>G, NM_001322414.1:c.376A>G, NM_001322408.2:c.376A>G, NM_001322408.1:c.376A>G, NM_001322415.2:c.376A>G, NM_001322415.1:c.376A>G, NM_001322410.2:c.376A>G, NM_001322410.1:c.376A>G, NM_001322412.2:c.376A>G, NM_001322412.1:c.376A>G, NM_001322413.2:c.376A>G, NM_001322413.1:c.376A>G, NM_001322416.2:c.376A>G, NM_001322416.1:c.376A>G, NM_001322419.2:c.*1448A>G, NM_001322419.1:c.*1448A>G, NM_001322418.2:c.*1448A>G, NM_001322418.1:c.*1448A>G, NM_001322417.2:c.376A>G, NM_001322417.1:c.376A>G, XP_005266969.4:p.Ser126Gly, NP_116259.2:p.Ser126Gly, NP_056306.1:p.Ser126Gly, NP_001309335.1:p.Ser126Gly, NP_001309334.1:p.Ser126Gly, NP_001309343.1:p.Ser126Gly, NP_001309337.1:p.Ser126Gly, NP_001309344.1:p.Ser126Gly, NP_001309339.1:p.Ser126Gly, NP_001309341.1:p.Ser126Gly, NP_001309342.1:p.Ser126Gly, NP_001309345.1:p.Ser126Gly, NP_001309346.1:p.Ser126Gly

Select item 137491709614.

rs1374917096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:99410787 (GRCh38)
6:99858663 (GRCh37)
Canonical SPDI:: NC_000006.12:99410786:G:A
Gene:: PNISR (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.99410787G>A, NC_000006.11:g.99858663G>A, XM_005266912.5:c.455C>T, XM_005266912.4:c.644C>T, XM_005266912.3:c.455C>T, XM_005266912.2:c.644C>T, XM_005266912.1:c.644C>T, NM_032870.4:c.455C>T, NM_032870.3:c.455C>T, NM_032870.2:c.455C>T, NM_015491.3:c.455C>T, NM_015491.2:c.455C>T, NM_015491.1:c.455C>T, NR_136326.2:n.580C>T, NR_136326.1:n.617C>T, NM_001322406.2:c.455C>T, NM_001322406.1:c.455C>T, NM_001322405.2:c.455C>T, NM_001322405.1:c.455C>T, NM_001322414.2:c.455C>T, NM_001322414.1:c.455C>T, NM_001322408.2:c.455C>T, NM_001322408.1:c.455C>T, NM_001322415.2:c.455C>T, NM_001322415.1:c.455C>T, NM_001322410.2:c.455C>T, NM_001322410.1:c.455C>T, NM_001322412.2:c.455C>T, NM_001322412.1:c.455C>T, NM_001322413.2:c.455C>T, NM_001322413.1:c.455C>T, NM_001322416.2:c.455C>T, NM_001322416.1:c.455C>T, NM_001322419.2:c.*1527C>T, NM_001322419.1:c.*1527C>T, NM_001322418.2:c.*1527C>T, NM_001322418.1:c.*1527C>T, NM_001322417.2:c.455C>T, NM_001322417.1:c.455C>T, XP_005266969.4:p.Pro152Leu, NP_116259.2:p.Pro152Leu, NP_056306.1:p.Pro152Leu, NP_001309335.1:p.Pro152Leu, NP_001309334.1:p.Pro152Leu, NP_001309343.1:p.Pro152Leu, NP_001309337.1:p.Pro152Leu, NP_001309344.1:p.Pro152Leu, NP_001309339.1:p.Pro152Leu, NP_001309341.1:p.Pro152Leu, NP_001309342.1:p.Pro152Leu, NP_001309345.1:p.Pro152Leu, NP_001309346.1:p.Pro152Leu

Select item 136726988815.

rs1367269888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:99410888 (GRCh38)
6:99858764 (GRCh37)
Canonical SPDI:: NC_000006.12:99410887:G:A
Gene:: PNISR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.99410888G>A, NC_000006.11:g.99858764G>A, XM_005266912.5:c.354C>T, XM_005266912.4:c.543C>T, XM_005266912.3:c.354C>T, XM_005266912.2:c.543C>T, XM_005266912.1:c.543C>T, NM_032870.4:c.354C>T, NM_032870.3:c.354C>T, NM_032870.2:c.354C>T, NM_015491.3:c.354C>T, NM_015491.2:c.354C>T, NM_015491.1:c.354C>T, NR_136326.2:n.479C>T, NR_136326.1:n.516C>T, NM_001322406.2:c.354C>T, NM_001322406.1:c.354C>T, NM_001322405.2:c.354C>T, NM_001322405.1:c.354C>T, NM_001322414.2:c.354C>T, NM_001322414.1:c.354C>T, NM_001322408.2:c.354C>T, NM_001322408.1:c.354C>T, NM_001322415.2:c.354C>T, NM_001322415.1:c.354C>T, NM_001322410.2:c.354C>T, NM_001322410.1:c.354C>T, NM_001322412.2:c.354C>T, NM_001322412.1:c.354C>T, NM_001322413.2:c.354C>T, NM_001322413.1:c.354C>T, NM_001322416.2:c.354C>T, NM_001322416.1:c.354C>T, NM_001322419.2:c.*1426C>T, NM_001322419.1:c.*1426C>T, NM_001322418.2:c.*1426C>T, NM_001322418.1:c.*1426C>T, NM_001322417.2:c.354C>T, NM_001322417.1:c.354C>T

Select item 136642685916.

rs1366426859 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:99412556 (GRCh38)
6:99860432 (GRCh37)
Canonical SPDI:: NC_000006.12:99412555:T:C
Gene:: PNISR (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.99412556T>C, NC_000006.11:g.99860432T>C, XM_005266912.5:c.272A>G, XM_005266912.4:c.461A>G, XM_005266912.3:c.272A>G, XM_005266912.2:c.461A>G, XM_005266912.1:c.461A>G, NM_032870.4:c.272A>G, NM_032870.3:c.272A>G, NM_032870.2:c.272A>G, NM_015491.3:c.272A>G, NM_015491.2:c.272A>G, NM_015491.1:c.272A>G, NR_136326.2:n.397A>G, NR_136326.1:n.434A>G, NM_001322406.2:c.272A>G, NM_001322406.1:c.272A>G, NM_001322405.2:c.272A>G, NM_001322405.1:c.272A>G, NM_001322414.2:c.272A>G, NM_001322414.1:c.272A>G, NM_001322408.2:c.272A>G, NM_001322408.1:c.272A>G, NM_001322415.2:c.272A>G, NM_001322415.1:c.272A>G, NM_001322410.2:c.272A>G, NM_001322410.1:c.272A>G, NM_001322412.2:c.272A>G, NM_001322412.1:c.272A>G, NM_001322413.2:c.272A>G, NM_001322413.1:c.272A>G, NM_001322416.2:c.272A>G, NM_001322416.1:c.272A>G, NM_001322419.2:c.272A>G, NM_001322419.1:c.272A>G, NM_001322418.2:c.272A>G, NM_001322418.1:c.272A>G, NM_001322417.2:c.272A>G, NM_001322417.1:c.272A>G, XP_005266969.4:p.Gln91Arg, NP_116259.2:p.Gln91Arg, NP_056306.1:p.Gln91Arg, NP_001309335.1:p.Gln91Arg, NP_001309334.1:p.Gln91Arg, NP_001309343.1:p.Gln91Arg, NP_001309337.1:p.Gln91Arg, NP_001309344.1:p.Gln91Arg, NP_001309339.1:p.Gln91Arg, NP_001309341.1:p.Gln91Arg, NP_001309342.1:p.Gln91Arg, NP_001309345.1:p.Gln91Arg, NP_001309348.1:p.Gln91Arg, NP_001309347.1:p.Gln91Arg, NP_001309346.1:p.Gln91Arg

Select item 135629696417.

rs1356296964 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:99412605 (GRCh38)
6:99860481 (GRCh37)
Canonical SPDI:: NC_000006.12:99412604:T:C
Gene:: PNISR (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.99412605T>C, NC_000006.11:g.99860481T>C, XM_005266912.5:c.223A>G, XM_005266912.4:c.412A>G, XM_005266912.3:c.223A>G, XM_005266912.2:c.412A>G, XM_005266912.1:c.412A>G, NM_032870.4:c.223A>G, NM_032870.3:c.223A>G, NM_032870.2:c.223A>G, NM_015491.3:c.223A>G, NM_015491.2:c.223A>G, NM_015491.1:c.223A>G, NR_136326.2:n.348A>G, NR_136326.1:n.385A>G, NM_001322406.2:c.223A>G, NM_001322406.1:c.223A>G, NM_001322405.2:c.223A>G, NM_001322405.1:c.223A>G, NM_001322414.2:c.223A>G, NM_001322414.1:c.223A>G, NM_001322408.2:c.223A>G, NM_001322408.1:c.223A>G, NM_001322415.2:c.223A>G, NM_001322415.1:c.223A>G, NM_001322410.2:c.223A>G, NM_001322410.1:c.223A>G, NM_001322412.2:c.223A>G, NM_001322412.1:c.223A>G, NM_001322413.2:c.223A>G, NM_001322413.1:c.223A>G, NM_001322416.2:c.223A>G, NM_001322416.1:c.223A>G, NM_001322419.2:c.223A>G, NM_001322419.1:c.223A>G, NM_001322418.2:c.223A>G, NM_001322418.1:c.223A>G, NM_001322417.2:c.223A>G, NM_001322417.1:c.223A>G, XP_005266969.4:p.Asn75Asp, NP_116259.2:p.Asn75Asp, NP_056306.1:p.Asn75Asp, NP_001309335.1:p.Asn75Asp, NP_001309334.1:p.Asn75Asp, NP_001309343.1:p.Asn75Asp, NP_001309337.1:p.Asn75Asp, NP_001309344.1:p.Asn75Asp, NP_001309339.1:p.Asn75Asp, NP_001309341.1:p.Asn75Asp, NP_001309342.1:p.Asn75Asp, NP_001309345.1:p.Asn75Asp, NP_001309348.1:p.Asn75Asp, NP_001309347.1:p.Asn75Asp, NP_001309346.1:p.Asn75Asp

Select item 135560853318.

rs1355608533 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:99410753 (GRCh38)
6:99858629 (GRCh37)
Canonical SPDI:: NC_000006.12:99410752:C:T
Gene:: PNISR (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.99410753C>T, NC_000006.11:g.99858629C>T, XM_005266912.5:c.489G>A, XM_005266912.4:c.678G>A, XM_005266912.3:c.489G>A, XM_005266912.2:c.678G>A, XM_005266912.1:c.678G>A, NM_032870.4:c.489G>A, NM_032870.3:c.489G>A, NM_032870.2:c.489G>A, NM_015491.3:c.489G>A, NM_015491.2:c.489G>A, NM_015491.1:c.489G>A, NR_136326.2:n.614G>A, NR_136326.1:n.651G>A, NM_001322406.2:c.489G>A, NM_001322406.1:c.489G>A, NM_001322405.2:c.489G>A, NM_001322405.1:c.489G>A, NM_001322414.2:c.489G>A, NM_001322414.1:c.489G>A, NM_001322408.2:c.489G>A, NM_001322408.1:c.489G>A, NM_001322415.2:c.489G>A, NM_001322415.1:c.489G>A, NM_001322410.2:c.489G>A, NM_001322410.1:c.489G>A, NM_001322412.2:c.489G>A, NM_001322412.1:c.489G>A, NM_001322413.2:c.489G>A, NM_001322413.1:c.489G>A, NM_001322416.2:c.489G>A, NM_001322416.1:c.489G>A, NM_001322419.2:c.*1561G>A, NM_001322419.1:c.*1561G>A, NM_001322418.2:c.*1561G>A, NM_001322418.1:c.*1561G>A, NM_001322417.2:c.489G>A, NM_001322417.1:c.489G>A

Select item 135425136019.

rs1354251360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:99410836 (GRCh38)
6:99858712 (GRCh37)
Canonical SPDI:: NC_000006.12:99410835:G:T
Gene:: PNISR (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.99410836G>T, NC_000006.11:g.99858712G>T, XM_005266912.5:c.406C>A, XM_005266912.4:c.595C>A, XM_005266912.3:c.406C>A, XM_005266912.2:c.595C>A, XM_005266912.1:c.595C>A, NM_032870.4:c.406C>A, NM_032870.3:c.406C>A, NM_032870.2:c.406C>A, NM_015491.3:c.406C>A, NM_015491.2:c.406C>A, NM_015491.1:c.406C>A, NR_136326.2:n.531C>A, NR_136326.1:n.568C>A, NM_001322406.2:c.406C>A, NM_001322406.1:c.406C>A, NM_001322405.2:c.406C>A, NM_001322405.1:c.406C>A, NM_001322414.2:c.406C>A, NM_001322414.1:c.406C>A, NM_001322408.2:c.406C>A, NM_001322408.1:c.406C>A, NM_001322415.2:c.406C>A, NM_001322415.1:c.406C>A, NM_001322410.2:c.406C>A, NM_001322410.1:c.406C>A, NM_001322412.2:c.406C>A, NM_001322412.1:c.406C>A, NM_001322413.2:c.406C>A, NM_001322413.1:c.406C>A, NM_001322416.2:c.406C>A, NM_001322416.1:c.406C>A, NM_001322419.2:c.*1478C>A, NM_001322419.1:c.*1478C>A, NM_001322418.2:c.*1478C>A, NM_001322418.1:c.*1478C>A, NM_001322417.2:c.406C>A, NM_001322417.1:c.406C>A, XP_005266969.4:p.Pro136Thr, NP_116259.2:p.Pro136Thr, NP_056306.1:p.Pro136Thr, NP_001309335.1:p.Pro136Thr, NP_001309334.1:p.Pro136Thr, NP_001309343.1:p.Pro136Thr, NP_001309337.1:p.Pro136Thr, NP_001309344.1:p.Pro136Thr, NP_001309339.1:p.Pro136Thr, NP_001309341.1:p.Pro136Thr, NP_001309342.1:p.Pro136Thr, NP_001309345.1:p.Pro136Thr, NP_001309346.1:p.Pro136Thr

Select item 135099807120.

rs1350998071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:99412739 (GRCh38)
6:99860615 (GRCh37)
Canonical SPDI:: NC_000006.12:99412738:C:T
Gene:: PNISR (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.99412739C>T, NC_000006.11:g.99860615C>T, XM_005266912.5:c.89G>A, XM_005266912.4:c.278G>A, XM_005266912.3:c.89G>A, XM_005266912.2:c.278G>A, XM_005266912.1:c.278G>A, NM_032870.4:c.89G>A, NM_032870.3:c.89G>A, NM_032870.2:c.89G>A, NM_015491.3:c.89G>A, NM_015491.2:c.89G>A, NM_015491.1:c.89G>A, NR_136326.2:n.214G>A, NR_136326.1:n.251G>A, NM_001322406.2:c.89G>A, NM_001322406.1:c.89G>A, NM_001322405.2:c.89G>A, NM_001322405.1:c.89G>A, NM_001322414.2:c.89G>A, NM_001322414.1:c.89G>A, NM_001322408.2:c.89G>A, NM_001322408.1:c.89G>A, NM_001322415.2:c.89G>A, NM_001322415.1:c.89G>A, NM_001322410.2:c.89G>A, NM_001322410.1:c.89G>A, NM_001322412.2:c.89G>A, NM_001322412.1:c.89G>A, NM_001322413.2:c.89G>A, NM_001322413.1:c.89G>A, NM_001322416.2:c.89G>A, NM_001322416.1:c.89G>A, NM_001322419.2:c.89G>A, NM_001322419.1:c.89G>A, NM_001322418.2:c.89G>A, NM_001322418.1:c.89G>A, NM_001322417.2:c.89G>A, NM_001322417.1:c.89G>A, XP_005266969.4:p.Ser30Asn, NP_116259.2:p.Ser30Asn, NP_056306.1:p.Ser30Asn, NP_001309335.1:p.Ser30Asn, NP_001309334.1:p.Ser30Asn, NP_001309343.1:p.Ser30Asn, NP_001309337.1:p.Ser30Asn, NP_001309344.1:p.Ser30Asn, NP_001309339.1:p.Ser30Asn, NP_001309341.1:p.Ser30Asn, NP_001309342.1:p.Ser30Asn, NP_001309345.1:p.Ser30Asn, NP_001309348.1:p.Ser30Asn, NP_001309347.1:p.Ser30Asn, NP_001309346.1:p.Ser30Asn

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