Linked Data
ClinVar Variation Id:
754013
ClinVar RCV Id:
RCV000931303
dbSNP Id:
rs1388386866
gnomAD v2:
X-38268173-G-A
gnomAD v3:
X-38408920-G-A
gnomAD v4:
X-38408920-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408920G>A , CM000685.2:g.38408920G>A | GRCh38 |
| NC_000023.10:g.38268173G>A , CM000685.1:g.38268173G>A | GRCh37 |
| NC_000023.9:g.38153117G>A | NCBI36 |
| NG_008471.1:g.61438G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.762G>A MANE Select | ENSP00000039007.4:p.Ala254= | |
| ENST00000643344.1:c.*512G>A | ENSP00000496606.1:n.*512G>A | |
| ENST00000039007.4:c.762G>A | ENSP00000039007.4:p.Ala254= | |
| ENST00000465127.1:c.172-257201G>A | ENSP00000417050.1:n.172-257201G>A | |
| NM_000531.5:c.762G>A | NP_000522.3:p.Ala254= | |
| XM_017029556.1:c.762G>A | XP_016885045.1:p.Ala254= | |
| NM_000531.6:c.762G>A MANE Select | NP_000522.3:p.Ala254= |