Linked Data
ClinVar Variation Id:
13733
ClinVar RCV Id:
RCV000014736
dbSNP Id:
rs71455367
ExAC:
12:11421038 G / A
gnomAD v2:
12-11421038-G-A
gnomAD v3:
12-11268104-G-A
gnomAD v4:
12-11268104-G-A
PubMed:
PMID:2171329
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.11268104G>A , CM000674.2:g.11268104G>A | GRCh38 |
| NC_000012.11:g.11421038G>A , CM000674.1:g.11421038G>A | GRCh37 |
| NC_000012.10:g.11312305G>A | NCBI36 |
| NG_013305.2:g.6604C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000538488.3:c.145C>T MANE Select | ENSP00000442626.2:p.Arg49Cys | |
| ENST00000381842.7:c.145C>T | ENSP00000371264.3:p.Arg49Cys | |
| ENST00000538488.2:c.145C>T | ENSP00000442626.2:p.Arg49Cys | |
| ENST00000539835.1:n.152C>T | ||
| NM_006249.5:c.145C>T | NP_006240.4:p.Arg49Cys | |
| NM_001394862.1:c.145C>T MANE Select | NP_001381791.1:p.Arg49Cys |