Linked Data
ClinVar Variation Id:
379897
dbSNP Id:
rs782809184
ExAC:
X:153009124 G / A
gnomAD v2:
X-153009124-G-A
gnomAD v3:
X-153743670-G-A
gnomAD v4:
X-153743670-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153743670G>A , CM000685.2:g.153743670G>A | GRCh38 |
| NC_000023.10:g.153009124G>A , CM000685.1:g.153009124G>A | GRCh37 |
| NC_000023.9:g.152662318G>A | NCBI36 |
| NG_009022.2:g.23803G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.2173G>A MANE Select | ENSP00000218104.3:p.Ala725Thr | |
| ENST00000218104.5:c.2173G>A | ENSP00000218104.3:p.Ala725Thr | |
| NM_000033.3:c.2173G>A | NP_000024.2:p.Ala725Thr | |
| XR_938507.1:n.2645G>A | ||
| XR_938507.2:n.2645G>A | ||
| NM_000033.4:c.2173G>A MANE Select | NP_000024.2:p.Ala725Thr |