Linked Data
ClinVar Variation Id:
449185
dbSNP Id:
rs782040427
ExAC:
X:152955850 G / A
gnomAD v2:
X-152955850-G-A
gnomAD v3:
X-153690395-G-A
gnomAD v4:
X-153690395-G-A
COSMIC:
COSM5475326
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153690395G>A , CM000685.2:g.153690395G>A | GRCh38 |
| NC_000023.10:g.152955850G>A , CM000685.1:g.152955850G>A | GRCh37 |
| NC_000023.9:g.152609044G>A | NCBI36 |
| NG_012016.1:g.7099G>A | |
| NG_012016.2:g.7099G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.283G>A MANE Select | ENSP00000253122.5:p.Val95Ile | |
| ENST00000675713.1:n.37G>A | ||
| ENST00000253122.9:c.283G>A | ENSP00000253122.5:p.Val95Ile | |
| ENST00000430077.6:c.-63G>A | ENSP00000403041.2:n.-63G>A | |
| ENST00000476466.1:n.135G>A | ||
| NM_001142805.1:c.283G>A | NP_001136277.1:p.Val95Ile | |
| NM_001142806.1:c.-63G>A | NP_001136278.1:n.-63G>A | |
| NM_005629.3:c.283G>A | NP_005620.1:p.Val95Ile | |
| NM_005629.4:c.283G>A MANE Select | NP_005620.1:p.Val95Ile | |
| NM_001142805.2:c.283G>A | NP_001136277.1:p.Val95Ile |