Linked Data
dbSNP Id:
rs144586521
ExAC:
X:8504818 C / T
gnomAD v2:
X-8504818-C-T
gnomAD v3:
X-8536777-C-T
gnomAD v4:
X-8536777-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8536777C>T , CM000685.2:g.8536777C>T | GRCh38 |
| NC_000023.10:g.8504818C>T , CM000685.1:g.8504818C>T | GRCh37 |
| NC_000023.9:g.8464818C>T | NCBI36 |
| NG_007088.1:g.200410G>A | |
| NG_007088.2:g.200410G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262648.8:c.1615G>A MANE Select | ENSP00000262648.3:p.Glu539Lys | |
| ENST00000262648.7:c.1615G>A | ENSP00000262648.3:p.Glu539Lys | |
| ENST00000481896.1:n.160G>A | ||
| ENST00000619786.1:c.1612G>A | ENSP00000478734.1:p.Glu538Lys | |
| NM_000216.2:c.1615G>A | NP_000207.2:p.Glu539Lys | |
| NM_000216.3:c.1615G>A | NP_000207.2:p.Glu539Lys | |
| NM_000216.4:c.1615G>A MANE Select | NP_000207.2:p.Glu539Lys |