Linked Data
ClinVar Variation Id:
10003
ClinVar RCV Id:
RCV000010686
dbSNP Id:
rs137852512
gnomAD v4:
X-8587809-C-T
PubMed:
PMID:1518845
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8587809C>T , CM000685.2:g.8587809C>T | GRCh38 |
| NC_000023.10:g.8555850C>T , CM000685.1:g.8555850C>T | GRCh37 |
| NC_000023.9:g.8515850C>T | NCBI36 |
| NG_007088.1:g.149378G>A | |
| NG_007088.2:g.149378G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262648.8:c.711G>A MANE Select | ENSP00000262648.3:p.Trp237Ter | |
| ENST00000262648.7:c.711G>A | ENSP00000262648.3:p.Trp237Ter | |
| ENST00000619786.1:c.708G>A | ENSP00000478734.1:p.Trp236Ter | |
| NM_000216.2:c.711G>A | NP_000207.2:p.Trp237Ter | |
| XM_005274501.3:c.711G>A | XP_005274558.1:p.Trp237Ter | |
| NM_000216.3:c.711G>A | NP_000207.2:p.Trp237Ter | |
| XM_005274501.4:c.711G>A | XP_005274558.1:p.Trp237Ter | |
| NM_000216.4:c.711G>A MANE Select | NP_000207.2:p.Trp237Ter |