Linked Data
dbSNP Id:
rs1189457059
gnomAD v3:
X-83508382-G-A
gnomAD v4:
X-83508382-G-A
COSMIC:
COSM1125918
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.83508382G>A , CM000685.2:g.83508382G>A | GRCh38 |
| NC_000023.10:g.82763390G>A , CM000685.1:g.82763390G>A | GRCh37 |
| NC_000023.9:g.82650046G>A | NCBI36 |
| NG_009936.2:g.5122G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644024.2:c.58G>A MANE Select | ENSP00000495996.1:p.Ala20Thr | |
| ENST00000373200.4:c.58G>A | ENSP00000362296.2:p.Ala20Thr | |
| NM_000307.4:c.58G>A | NP_000298.3:p.Ala20Thr | |
| NM_000307.5:c.58G>A MANE Select | NP_000298.3:p.Ala20Thr |