Linked Data
ClinVar Variation Id:
6920
ClinVar RCV Id:
RCV000007329
dbSNP Id:
rs121908982
ExAC:
7:2265161 G / A
gnomAD v2:
7-2265161-G-A
gnomAD v3:
7-2225526-G-A
gnomAD v4:
7-2225526-G-A
PubMed:
PMID:11423979
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2225526G>A , CM000669.2:g.2225526G>A | GRCh38 |
| NC_000007.13:g.2265161G>A , CM000669.1:g.2265161G>A | GRCh37 |
| NC_000007.12:g.2231687G>A | NCBI36 |
| NG_011518.1:g.12423C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265854.12:c.175C>T MANE Select | ENSP00000265854.7:p.Arg59Cys | |
| ENST00000651235.1:c.*2583C>T | ENSP00000498895.1:n.*2583C>T | |
| ENST00000265854.11:c.175C>T | ENSP00000265854.7:p.Arg59Cys | |
| ENST00000399654.6:c.175C>T | ENSP00000382562.2:p.Arg59Cys | |
| ENST00000402746.5:c.-124-2772C>T | ENSP00000384155.1:n.-124-2772C>T | |
| ENST00000406869.5:c.175C>T | ENSP00000385334.1:p.Arg59Cys | |
| ENST00000429625.5:c.-39C>T | ENSP00000413139.1:n.-39C>T | |
| ENST00000429779.1:c.175C>T | ENSP00000395457.1:p.Arg59Cys | |
| ENST00000455998.5:c.151-2772C>T | ENSP00000390099.1:n.151-2772C>T | |
| NM_001013836.1:c.175C>T | NP_001013858.1:p.Arg59Cys | |
| NM_001013837.1:c.175C>T | NP_001013859.1:p.Arg59Cys | |
| NM_001304523.1:c.175C>T | NP_001291452.1:p.Arg59Cys | |
| NM_001304524.1:c.-124-2772C>T | NP_001291453.1:n.-124-2772C>T | |
| NM_003550.2:c.175C>T | NP_003541.2:p.Arg59Cys | |
| XM_005249877.1:c.151-2772C>T | XP_005249934.1:n.151-2772C>T | |
| XM_011515567.1:c.175C>T | XP_011513869.1:p.Arg59Cys | |
| XM_011515568.1:c.175C>T | XP_011513870.1:p.Arg59Cys | |
| XM_011515570.1:c.175C>T | XP_011513872.1:p.Arg59Cys | |
| XM_011515568.3:c.175C>T | XP_011513870.1:p.Arg59Cys | |
| XM_017012690.1:c.367C>T | XP_016868179.1:p.Arg123Cys | |
| XM_024446951.1:c.175C>T | XP_024302719.1:p.Arg59Cys | |
| XM_024446952.1:c.175C>T | XP_024302720.1:p.Arg59Cys | |
| NM_001013836.2:c.175C>T MANE Select | NP_001013858.1:p.Arg59Cys | |
| NM_001013837.2:c.175C>T | NP_001013859.1:p.Arg59Cys | |
| NM_001304523.2:c.175C>T | NP_001291452.1:p.Arg59Cys | |
| NM_001304524.2:c.-124-2772C>T | NP_001291453.1:n.-124-2772C>T | |
| NM_003550.3:c.175C>T | NP_003541.2:p.Arg59Cys |