Linked Data
dbSNP Id:
rs2266879
ExAC:
X:153035798 G / A
gnomAD v2:
X-153035798-G-A
gnomAD v3:
X-153770343-G-A
gnomAD v4:
X-153770343-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153770343G>A , CM000685.2:g.153770343G>A | GRCh38 |
| NC_000023.10:g.153035798G>A , CM000685.1:g.153035798G>A | GRCh37 |
| NC_000023.9:g.152688992G>A | NCBI36 |
| NG_013255.1:g.11148G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361971.10:c.1792G>A MANE Select | ENSP00000355378.5:p.Val598Ile | |
| ENST00000361971.9:c.1792G>A | ENSP00000355378.5:p.Val598Ile | |
| ENST00000538966.5:c.1861G>A | ENSP00000442736.1:p.Val621Ile | |
| NM_001163257.1:c.1861G>A | NP_001156729.1:p.Val621Ile | |
| NM_005393.2:c.1792G>A | NP_005384.2:p.Val598Ile | |
| NM_005393.3:c.1792G>A MANE Select | NP_005384.2:p.Val598Ile | |
| NM_001163257.2:c.1861G>A | NP_001156729.1:p.Val621Ile |