SNP Links for Protein (Select 614458221) - SNP

Links from Protein

Items: 1 to 20 of 780

<< First< Prev

Page of 39

Next >Last >>

Select item 14902638021.

rs1490263802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:24094422 (GRCh38)
14:24563631 (GRCh37)
Canonical SPDI:: NC_000014.9:24094421:G:A,NC_000014.9:24094421:G:T
Gene:: NRL (Varview), PCK2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.24094422G>A, NC_000014.9:g.24094422G>T, NG_011697.2:g.25593C>T, NG_011697.2:g.25593C>A, NG_008162.2:g.5149G>A, NG_008162.2:g.5149G>T, NM_004563.4:c.17G>A, NM_004563.4:c.17G>T, NM_004563.3:c.17G>A, NM_004563.3:c.17G>T, NM_004563.2:c.17G>A, NM_004563.2:c.17G>T, NM_001018073.3:c.17G>A, NM_001018073.3:c.17G>T, NM_001018073.2:c.17G>A, NM_001018073.2:c.17G>T, NM_001018073.1:c.17G>A, NM_001018073.1:c.17G>T, NM_001308054.2:c.-797G>A, NM_001308054.2:c.-797G>T, NM_001308054.1:c.-797G>A, NM_001308054.1:c.-797G>T, NM_001291556.2:c.-220G>A, NM_001291556.2:c.-220G>T, NM_001291556.1:c.-220G>A, NM_001291556.1:c.-220G>T, NW_018654722.1:g.395400G>A, NW_018654722.1:g.395400G>T, NC_000014.8:g.24563631G>A, NC_000014.8:g.24563631G>T, XM_006720158.3:c.17G>A, XM_006720158.3:c.17G>T, XM_006720158.2:c.17G>A, XM_006720158.2:c.17G>T, XM_006720158.1:c.17G>A, XM_006720158.1:c.17G>T, NP_004554.3:p.Arg6His, NP_004554.3:p.Arg6Leu, NP_001018083.2:p.Arg6His, NP_001018083.2:p.Arg6Leu, XP_006720221.1:p.Arg6His, XP_006720221.1:p.Arg6Leu

Select item 14902087262.

rs1490208726 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:24100053 (GRCh38)
14:24569262 (GRCh37)
Canonical SPDI:: NC_000014.9:24100052:T:C
Gene:: NRL (Varview), PCK2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.24100053T>C, NG_011697.2:g.19962A>G, NG_008162.2:g.10780T>C, NM_004563.4:c.1074T>C, NM_004563.3:c.1074T>C, NM_004563.2:c.1074T>C, NM_001018073.3:c.1074T>C, NM_001018073.2:c.1074T>C, NM_001018073.1:c.1074T>C, NM_001308054.2:c.672T>C, NM_001308054.1:c.672T>C, NM_001291556.2:c.672T>C, NM_001291556.1:c.672T>C, NW_018654722.1:g.401031T>C, NC_000014.8:g.24569262T>C, XM_006720158.3:c.1074T>C, XM_006720158.2:c.1074T>C, XM_006720158.1:c.1074T>C, XM_047431429.1:c.672T>C, XM_047431428.1:c.672T>C

Select item 14898049623.

rs1489804962 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:24097103 (GRCh38)
14:24566312 (GRCh37)
Canonical SPDI:: NC_000014.9:24097102:G:A
Gene:: NRL (Varview), PCK2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.24097103G>A, NG_011697.2:g.22912C>T, NG_008162.2:g.7830G>A, NM_004563.4:c.241G>A, NM_004563.3:c.241G>A, NM_004563.2:c.241G>A, NM_001018073.3:c.241G>A, NM_001018073.2:c.241G>A, NM_001018073.1:c.241G>A, NM_001308054.2:c.-162G>A, NM_001308054.1:c.-162G>A, NW_018654722.1:g.398081G>A, NC_000014.8:g.24566312G>A, XM_006720158.3:c.241G>A, XM_006720158.2:c.241G>A, XM_006720158.1:c.241G>A, XM_047431429.1:c.-162G>A, XM_047431428.1:c.-162G>A, NP_004554.3:p.Gly81Ser, NP_001018083.2:p.Gly81Ser, XP_006720221.1:p.Gly81Ser

Select item 14887490134.

rs1488749013 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:24103869 (GRCh38)
14:24573078 (GRCh37)
Canonical SPDI:: NC_000014.9:24103868:A:G
Gene:: NRL (Varview), PCK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.24103869A>G, NG_011697.2:g.16146T>C, NG_008162.2:g.14596A>G, NM_004563.4:c.1828A>G, NM_004563.3:c.1828A>G, NM_004563.2:c.1828A>G, NM_001308054.2:c.1426A>G, NM_001308054.1:c.1426A>G, NM_001291556.2:c.1426A>G, NM_001291556.1:c.1426A>G, NW_018654722.1:g.404847A>G, NC_000014.8:g.24573078A>G, XM_006720158.3:c.*2A>G, XM_006720158.2:c.*2A>G, XM_006720158.1:c.*2A>G, XM_047431429.1:c.1426A>G, XM_047431428.1:c.1426A>G, NP_004554.3:p.Ile610Val, NP_001294983.1:p.Ile476Val, NP_001278485.1:p.Ile476Val, XP_047287385.1:p.Ile476Val, XP_047287384.1:p.Ile476Val

Select item 14844664455.

rs1484466445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:24103876 (GRCh38)
14:24573085 (GRCh37)
Canonical SPDI:: NC_000014.9:24103875:G:A
Gene:: NRL (Varview), PCK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.24103876G>A, NG_011697.2:g.16139C>T, NG_008162.2:g.14603G>A, NM_004563.4:c.1835G>A, NM_004563.3:c.1835G>A, NM_004563.2:c.1835G>A, NM_001308054.2:c.1433G>A, NM_001308054.1:c.1433G>A, NM_001291556.2:c.1433G>A, NM_001291556.1:c.1433G>A, NW_018654722.1:g.404854G>A, NC_000014.8:g.24573085G>A, XM_006720158.3:c.*9G>A, XM_006720158.2:c.*9G>A, XM_006720158.1:c.*9G>A, XM_047431429.1:c.1433G>A, XM_047431428.1:c.1433G>A, NP_004554.3:p.Ser612Asn, NP_001294983.1:p.Ser478Asn, NP_001278485.1:p.Ser478Asn, XP_047287385.1:p.Ser478Asn, XP_047287384.1:p.Ser478Asn

Select item 14838498236.

rs1483849823 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:24103841 (GRCh38)
14:24573050 (GRCh37)
Canonical SPDI:: NC_000014.9:24103840:G:A
Gene:: NRL (Varview), PCK2 (Varview)
Functional Consequence:: splice_acceptor_variant,synonymous_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24103841G>A, NG_011697.2:g.16174C>T, NG_008162.2:g.14568G>A, NM_004563.4:c.1800G>A, NM_004563.3:c.1800G>A, NM_004563.2:c.1800G>A, NM_001308054.2:c.1398G>A, NM_001308054.1:c.1398G>A, NM_001291556.2:c.1398G>A, NM_001291556.1:c.1398G>A, NW_018654722.1:g.404819G>A, NC_000014.8:g.24573050G>A, XM_047431429.1:c.1398G>A, XM_047431428.1:c.1398G>A

Select item 14832321697.

rs1483232169 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:24102812 (GRCh38)
14:24572021 (GRCh37)
Canonical SPDI:: NC_000014.9:24102811:C:T
Gene:: NRL (Varview), PCK2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24102812C>T, NG_011697.2:g.17203G>A, NG_008162.2:g.13539C>T, NM_004563.4:c.1294C>T, NM_004563.3:c.1294C>T, NM_004563.2:c.1294C>T, NM_001308054.2:c.892C>T, NM_001308054.1:c.892C>T, NM_001291556.2:c.892C>T, NM_001291556.1:c.892C>T, NW_018654722.1:g.403790C>T, NC_000014.8:g.24572021C>T, XM_006720158.3:c.1294C>T, XM_006720158.2:c.1294C>T, XM_006720158.1:c.1294C>T, XM_047431429.1:c.892C>T, XM_047431428.1:c.892C>T, NP_004554.3:p.Pro432Ser, NP_001294983.1:p.Pro298Ser, NP_001278485.1:p.Pro298Ser, XP_006720221.1:p.Pro432Ser, XP_047287385.1:p.Pro298Ser, XP_047287384.1:p.Pro298Ser

Select item 14831288518.

rs1483128851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:24103660 (GRCh38)
14:24572869 (GRCh37)
Canonical SPDI:: NC_000014.9:24103659:C:A
Gene:: NRL (Varview), PCK2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24103660C>A, NG_011697.2:g.16355G>T, NG_008162.2:g.14387C>A, NM_004563.4:c.1619C>A, NM_004563.3:c.1619C>A, NM_004563.2:c.1619C>A, NM_001308054.2:c.1217C>A, NM_001308054.1:c.1217C>A, NM_001291556.2:c.1217C>A, NM_001291556.1:c.1217C>A, NW_018654722.1:g.404638C>A, NC_000014.8:g.24572869C>A, XM_047431429.1:c.1217C>A, XM_047431428.1:c.1217C>A, NP_004554.3:p.Ala540Glu, NP_001294983.1:p.Ala406Glu, NP_001278485.1:p.Ala406Glu, XP_047287385.1:p.Ala406Glu, XP_047287384.1:p.Ala406Glu

Select item 14826112189.

rs1482611218 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:24098631 (GRCh38)
14:24567840 (GRCh37)
Canonical SPDI:: NC_000014.9:24098630:A:C
Gene:: NRL (Varview), PCK2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24098631A>C, NG_011697.2:g.21384T>G, NG_008162.2:g.9358A>C, NM_004563.4:c.617A>C, NM_004563.3:c.617A>C, NM_004563.2:c.617A>C, NM_001018073.3:c.617A>C, NM_001018073.2:c.617A>C, NM_001018073.1:c.617A>C, NM_001308054.2:c.215A>C, NM_001308054.1:c.215A>C, NM_001291556.2:c.215A>C, NM_001291556.1:c.215A>C, NW_018654722.1:g.399609A>C, NC_000014.8:g.24567840A>C, XM_006720158.3:c.617A>C, XM_006720158.2:c.617A>C, XM_006720158.1:c.617A>C, XM_047431429.1:c.215A>C, XM_047431428.1:c.215A>C, NP_004554.3:p.Asp206Ala, NP_001018083.2:p.Asp206Ala, NP_001294983.1:p.Asp72Ala, NP_001278485.1:p.Asp72Ala, XP_006720221.1:p.Asp206Ala, XP_047287385.1:p.Asp72Ala, XP_047287384.1:p.Asp72Ala

Select item 148239689910.

rs1482396899 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:24099619 (GRCh38)
14:24568828 (GRCh37)
Canonical SPDI:: NC_000014.9:24099618:C:T
Gene:: NRL (Varview), PCK2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_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=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.24099619C>T, NG_011697.2:g.20396G>A, NG_008162.2:g.10346C>T, NM_004563.4:c.914C>T, NM_004563.3:c.914C>T, NM_004563.2:c.914C>T, NM_001018073.3:c.914C>T, NM_001018073.2:c.914C>T, NM_001018073.1:c.914C>T, NM_001308054.2:c.512C>T, NM_001308054.1:c.512C>T, NM_001291556.2:c.512C>T, NM_001291556.1:c.512C>T, NW_018654722.1:g.400597C>T, NC_000014.8:g.24568828C>T, XM_006720158.3:c.914C>T, XM_006720158.2:c.914C>T, XM_006720158.1:c.914C>T, XM_047431429.1:c.512C>T, XM_047431428.1:c.512C>T, NP_004554.3:p.Ala305Val, NP_001018083.2:p.Ala305Val, NP_001294983.1:p.Ala171Val, NP_001278485.1:p.Ala171Val, XP_006720221.1:p.Ala305Val, XP_047287385.1:p.Ala171Val, XP_047287384.1:p.Ala171Val

Select item 147995025911.

rs1479950259 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:24103960 (GRCh38)
14:24573169 (GRCh37)
Canonical SPDI:: NC_000014.9:24103959:T:C
Gene:: NRL (Varview), PCK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.24103960T>C, NG_011697.2:g.16055A>G, NG_008162.2:g.14687T>C, NM_004563.4:c.1919T>C, NM_004563.3:c.1919T>C, NM_004563.2:c.1919T>C, NM_001308054.2:c.1517T>C, NM_001308054.1:c.1517T>C, NM_001291556.2:c.1517T>C, NM_001291556.1:c.1517T>C, NW_018654722.1:g.404938T>C, NC_000014.8:g.24573169T>C, XM_006720158.3:c.*93T>C, XM_006720158.2:c.*93T>C, XM_006720158.1:c.*93T>C, XM_047431429.1:c.1517T>C, XM_047431428.1:c.1517T>C, NP_004554.3:p.Met640Thr, NP_001294983.1:p.Met506Thr, NP_001278485.1:p.Met506Thr, XP_047287385.1:p.Met506Thr, XP_047287384.1:p.Met506Thr

Select item 147943655212.

rs1479436552 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:24097041 (GRCh38)
14:24566250 (GRCh37)
Canonical SPDI:: NC_000014.9:24097040:T:C
Gene:: NRL (Varview), PCK2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24097041T>C, NG_011697.2:g.22974A>G, NG_008162.2:g.7768T>C, NM_004563.4:c.179T>C, NM_004563.3:c.179T>C, NM_004563.2:c.179T>C, NM_001018073.3:c.179T>C, NM_001018073.2:c.179T>C, NM_001018073.1:c.179T>C, NM_001308054.2:c.-224T>C, NM_001308054.1:c.-224T>C, NW_018654722.1:g.398019T>C, NC_000014.8:g.24566250T>C, XM_006720158.3:c.179T>C, XM_006720158.2:c.179T>C, XM_006720158.1:c.179T>C, XM_047431429.1:c.-224T>C, XM_047431428.1:c.-224T>C, NP_004554.3:p.Ile60Thr, NP_001018083.2:p.Ile60Thr, XP_006720221.1:p.Ile60Thr

Select item 147902646313.

rs1479026463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:24100121 (GRCh38)
14:24569330 (GRCh37)
Canonical SPDI:: NC_000014.9:24100120:C:T
Gene:: NRL (Varview), PCK2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24100121C>T, NG_011697.2:g.19894G>A, NG_008162.2:g.10848C>T, NM_004563.4:c.1142C>T, NM_004563.3:c.1142C>T, NM_004563.2:c.1142C>T, NM_001018073.3:c.1142C>T, NM_001018073.2:c.1142C>T, NM_001018073.1:c.1142C>T, NM_001308054.2:c.740C>T, NM_001308054.1:c.740C>T, NM_001291556.2:c.740C>T, NM_001291556.1:c.740C>T, NW_018654722.1:g.401099C>T, NC_000014.8:g.24569330C>T, XM_006720158.3:c.1142C>T, XM_006720158.2:c.1142C>T, XM_006720158.1:c.1142C>T, XM_047431429.1:c.740C>T, XM_047431428.1:c.740C>T, NP_004554.3:p.Thr381Ile, NP_001018083.2:p.Thr381Ile, NP_001294983.1:p.Thr247Ile, NP_001278485.1:p.Thr247Ile, XP_006720221.1:p.Thr381Ile, XP_047287385.1:p.Thr247Ile, XP_047287384.1:p.Thr247Ile

Select item 147648507614.

rs1476485076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:24099191 (GRCh38)
14:24568400 (GRCh37)
Canonical SPDI:: NC_000014.9:24099190:C:G
Gene:: NRL (Varview), PCK2 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.00135/16 (ALFA)
HGVS:: NC_000014.9:g.24099191C>G, NG_011697.2:g.20824G>C, NG_008162.2:g.9918C>G, NM_004563.4:c.807C>G, NM_004563.3:c.807C>G, NM_004563.2:c.807C>G, NM_001018073.3:c.807C>G, NM_001018073.2:c.807C>G, NM_001018073.1:c.807C>G, NM_001308054.2:c.405C>G, NM_001308054.1:c.405C>G, NM_001291556.2:c.405C>G, NM_001291556.1:c.405C>G, NW_018654722.1:g.400169C>G, NC_000014.8:g.24568400C>G, XM_006720158.3:c.807C>G, XM_006720158.2:c.807C>G, XM_006720158.1:c.807C>G, XM_047431429.1:c.405C>G, XM_047431428.1:c.405C>G

Select item 147385755315.

rs1473857553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:24103892 (GRCh38)
14:24573101 (GRCh37)
Canonical SPDI:: NC_000014.9:24103891:G:A,NC_000014.9:24103891:G:T
Gene:: NRL (Varview), PCK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.24103892G>A, NC_000014.9:g.24103892G>T, NG_011697.2:g.16123C>T, NG_011697.2:g.16123C>A, NG_008162.2:g.14619G>A, NG_008162.2:g.14619G>T, NM_004563.4:c.1851G>A, NM_004563.4:c.1851G>T, NM_004563.3:c.1851G>A, NM_004563.3:c.1851G>T, NM_004563.2:c.1851G>A, NM_004563.2:c.1851G>T, NM_001308054.2:c.1449G>A, NM_001308054.2:c.1449G>T, NM_001308054.1:c.1449G>A, NM_001308054.1:c.1449G>T, NM_001291556.2:c.1449G>A, NM_001291556.2:c.1449G>T, NM_001291556.1:c.1449G>A, NM_001291556.1:c.1449G>T, NW_018654722.1:g.404870G>A, NW_018654722.1:g.404870G>T, NC_000014.8:g.24573101G>A, NC_000014.8:g.24573101G>T, XM_006720158.3:c.*25G>A, XM_006720158.3:c.*25G>T, XM_006720158.2:c.*25G>A, XM_006720158.2:c.*25G>T, XM_006720158.1:c.*25G>A, XM_006720158.1:c.*25G>T, XM_047431429.1:c.1449G>A, XM_047431429.1:c.1449G>T, XM_047431428.1:c.1449G>A, XM_047431428.1:c.1449G>T, NP_004554.3:p.Gln617His, NP_001294983.1:p.Gln483His, NP_001278485.1:p.Gln483His, XP_047287385.1:p.Gln483His, XP_047287384.1:p.Gln483His

Select item 147268490316.

rs1472684903 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 14:24099084 (GRCh38)
14:24568293 (GRCh37)
Canonical SPDI:: NC_000014.9:24099083:AAAA:AAA
Gene:: NRL (Varview), PCK2 (Varview)
Functional Consequence:: frameshift_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24099087del, NG_011697.2:g.20931del, NG_008162.2:g.9814del, NM_004563.4:c.703del, NM_004563.3:c.703del, NM_004563.2:c.703del, NM_001018073.3:c.703del, NM_001018073.2:c.703del, NM_001018073.1:c.703del, NM_001308054.2:c.301del, NM_001308054.1:c.301del, NM_001291556.2:c.301del, NM_001291556.1:c.301del, NW_018654722.1:g.400065del, NC_000014.8:g.24568296del, XM_006720158.3:c.703del, XM_006720158.2:c.703del, XM_006720158.1:c.703del, XM_047431429.1:c.301del, XM_047431428.1:c.301del, NP_004554.3:p.Thr235fs, NP_001018083.2:p.Thr235fs, NP_001294983.1:p.Thr101fs, NP_001278485.1:p.Thr101fs, XP_006720221.1:p.Thr235fs, XP_047287385.1:p.Thr101fs, XP_047287384.1:p.Thr101fs

Select item 147259357717.

rs1472593577 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:24103620 (GRCh38)
14:24572829 (GRCh37)
Canonical SPDI:: NC_000014.9:24103619:C:T
Gene:: NRL (Varview), PCK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.24103620C>T, NG_011697.2:g.16395G>A, NG_008162.2:g.14347C>T, NM_004563.4:c.1579C>T, NM_004563.3:c.1579C>T, NM_004563.2:c.1579C>T, NM_001308054.2:c.1177C>T, NM_001308054.1:c.1177C>T, NM_001291556.2:c.1177C>T, NM_001291556.1:c.1177C>T, NW_018654722.1:g.404598C>T, NC_000014.8:g.24572829C>T, XM_047431429.1:c.1177C>T, XM_047431428.1:c.1177C>T, NP_004554.3:p.Pro527Ser, NP_001294983.1:p.Pro393Ser, NP_001278485.1:p.Pro393Ser, XP_047287385.1:p.Pro393Ser, XP_047287384.1:p.Pro393Ser

Select item 147224912218.

rs1472249122 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:24098541 (GRCh38)
14:24567750 (GRCh37)
Canonical SPDI:: NC_000014.9:24098540:T:G
Gene:: NRL (Varview), PCK2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.24098541T>G, NG_011697.2:g.21474A>C, NG_008162.2:g.9268T>G, NM_004563.4:c.527T>G, NM_004563.3:c.527T>G, NM_004563.2:c.527T>G, NM_001018073.3:c.527T>G, NM_001018073.2:c.527T>G, NM_001018073.1:c.527T>G, NM_001308054.2:c.125T>G, NM_001308054.1:c.125T>G, NM_001291556.2:c.125T>G, NM_001291556.1:c.125T>G, NW_018654722.1:g.399519T>G, NC_000014.8:g.24567750T>G, XM_006720158.3:c.527T>G, XM_006720158.2:c.527T>G, XM_006720158.1:c.527T>G, XM_047431429.1:c.125T>G, XM_047431428.1:c.125T>G, NP_004554.3:p.Val176Gly, NP_001018083.2:p.Val176Gly, NP_001294983.1:p.Val42Gly, NP_001278485.1:p.Val42Gly, XP_006720221.1:p.Val176Gly, XP_047287385.1:p.Val42Gly, XP_047287384.1:p.Val42Gly

Select item 147123449619.

rs1471234496 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 14:24098221 (GRCh38)
14:24567430 (GRCh37)
Canonical SPDI:: NC_000014.9:24098220:CCCC:CCC
Gene:: NRL (Varview), PCK2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000015/4 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000014.9:g.24098224del, NC_000014.8:g.24567433del, NG_011697.2:g.21794del, NG_008162.2:g.8951del, NM_004563.4:c.297del, NM_004563.3:c.297del, NM_004563.2:c.297del, NM_001018073.3:c.297del, NM_001018073.2:c.297del, NM_001018073.1:c.297del, NM_001308054.2:c.-106del, NM_001308054.1:c.-106del, NM_001291556.2:c.-106del, NM_001291556.1:c.-106del, NW_018654722.1:g.399202del, XM_006720158.3:c.297del, XM_006720158.2:c.297del, XM_006720158.1:c.297del, XM_047431429.1:c.-106del, XM_047431428.1:c.-106del, NP_004554.3:p.Lys100fs, NP_001018083.2:p.Lys100fs, XP_006720221.1:p.Lys100fs

Select item 147099991120.

rs1470999911 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:24099143 (GRCh38)
14:24568352 (GRCh37)
Canonical SPDI:: NC_000014.9:24099142:T:C
Gene:: NRL (Varview), PCK2 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00059/7 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
T=0.5/2 (SGDP_PRJ)
HGVS:: NC_000014.9:g.24099143T>C, NG_011697.2:g.20872A>G, NG_008162.2:g.9870T>C, NM_004563.4:c.759T>C, NM_004563.3:c.759T>C, NM_004563.2:c.759T>C, NM_001018073.3:c.759T>C, NM_001018073.2:c.759T>C, NM_001018073.1:c.759T>C, NM_001308054.2:c.357T>C, NM_001308054.1:c.357T>C, NM_001291556.2:c.357T>C, NM_001291556.1:c.357T>C, NW_018654722.1:g.400121T>C, NC_000014.8:g.24568352T>C, XM_006720158.3:c.759T>C, XM_006720158.2:c.759T>C, XM_006720158.1:c.759T>C, XM_047431429.1:c.357T>C, XM_047431428.1:c.357T>C

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 780

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity