Linked Data
ClinVar Variation Id:
5978
dbSNP Id:
rs121908538
ExAC:
13:48528645 G / A
gnomAD v2:
13-48528645-G-A
gnomAD v3:
13-47954510-G-A
gnomAD v4:
13-47954510-G-A
PubMed:
PMID:17301081
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.47954510G>A , CM000675.2:g.47954510G>A | GRCh38 |
| NC_000013.10:g.48528645G>A , CM000675.1:g.48528645G>A | GRCh37 |
| NC_000013.9:g.47426646G>A | NCBI36 |
| NG_008241.1:g.51818C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634878.2:c.363C>T | ||
| ENST00000642944.1:c.676C>T | ENSP00000495674.1:p.Arg226Cys | |
| ENST00000643023.1:c.913C>T | ENSP00000495664.1:p.Arg305Cys | |
| ENST00000643584.1:c.850C>T | ENSP00000494987.1:p.Arg284Cys | |
| ENST00000646804.1:c.676C>T | ENSP00000493977.1:p.Arg226Cys | |
| ENST00000646932.1:c.850C>T MANE Select | ENSP00000494360.1:p.Arg284Cys | |
| ENST00000647361.1:c.*643C>T | ENSP00000494607.1:n.*643C>T | |
| ENST00000378654.8:c.850C>T | ENSP00000367923.3:p.Arg284Cys | |
| ENST00000433022.1:c.406C>T | ENSP00000415091.1:p.Arg136Cys | |
| ENST00000434484.5:c.640C>T | ENSP00000392771.1:p.Arg214Cys | |
| ENST00000467222.1:n.45C>T | ||
| ENST00000634878.1:c.363C>T | ||
| NM_003850.2:c.850C>T | NP_003841.1:p.Arg284Cys | |
| XM_011535292.1:c.613C>T | XP_011533594.1:p.Arg205Cys | |
| XM_011535293.1:c.448C>T | XP_011533595.1:p.Arg150Cys | |
| XR_941688.1:n.933C>T | ||
| NM_003850.3:c.850C>T MANE Select | NP_003841.1:p.Arg284Cys |