Linked Data
dbSNP Id:
rs782614830
ExAC:
X:153453456 G / A
gnomAD v2:
X-153453456-G-A
gnomAD v3:
X-154187967-G-A
gnomAD v4:
X-154187967-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154187967G>A , CM000685.2:g.154187967G>A | GRCh38 |
| NC_000023.10:g.153453456G>A , CM000685.1:g.153453456G>A | GRCh37 |
| NG_011606.1:g.10372G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595290.6:c.310G>A MANE Select | ENSP00000472316.1:p.Val104Ile | |
| ENST00000595290.5:c.310G>A | ENSP00000472316.1:p.Val104Ile | |
| ENST00000595330.1:n.320G>A | ||
| NM_000513.2:c.310G>A MANE Select | NP_000504.1:p.Val104Ile |