Linked Data
ClinVar Variation Id:
532309
ClinVar RCV Id:
RCV000639014
dbSNP Id:
rs1555904582
gnomAD v4:
X-8731879-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8731879C>T , CM000685.2:g.8731879C>T | GRCh38 |
| NC_000023.10:g.8699920C>T , CM000685.1:g.8699920C>T | GRCh37 |
| NC_000023.9:g.8659920C>T | NCBI36 |
| NG_007088.1:g.5308G>A | |
| NG_007088.2:g.5308G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.158G>A MANE Select | ENSP00000262648.3:p.Cys53Tyr | |
| ENST00000262648.7:c.158G>A | ENSP00000262648.3:p.Cys53Tyr | |
| ENST00000619786.1:c.155G>A | ENSP00000478734.1:p.Cys52Tyr | |
| NM_000216.2:c.158G>A | NP_000207.2:p.Cys53Tyr | |
| XM_005274501.3:c.158G>A | XP_005274558.1:p.Cys53Tyr | |
| NM_000216.3:c.158G>A | NP_000207.2:p.Cys53Tyr | |
| XM_005274501.4:c.158G>A | XP_005274558.1:p.Cys53Tyr | |
| NM_000216.4:c.158G>A MANE Select | NP_000207.2:p.Cys53Tyr |