Linked Data
ClinVar Variation Id:
10275
ClinVar RCV Id:
RCV000010988
dbSNP Id:
rs137852443
ExAC:
X:154133274 G / A
gnomAD v2:
X-154133274-G-A
gnomAD v4:
X-154904999-G-A
PubMed:
PMID:1301960
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154904999G>A , CM000685.2:g.154904999G>A | GRCh38 |
| NC_000023.10:g.154133274G>A , CM000685.1:g.154133274G>A | GRCh37 |
| NC_000023.9:g.153786468G>A | NCBI36 |
| NG_011403.1:g.122725C>T | |
| NG_011403.2:g.122725C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5398C>T MANE Select | ENSP00000353393.4:p.Arg1800Cys | |
| ENST00000360256.8:c.5398C>T | ENSP00000353393.4:p.Arg1800Cys | |
| NM_000132.3:c.5398C>T | NP_000123.1:p.Arg1800Cys | |
| XM_011531126.1:c.5293C>T | XP_011529428.1:p.Arg1765Cys | |
| NM_000132.4:c.5398C>T MANE Select | NP_000123.1:p.Arg1800Cys |