Linked Data
ClinVar Variation Id:
1599081
ClinVar RCV Id:
RCV002123020
dbSNP Id:
rs782256327
ExAC:
X:46713076 A / G
gnomAD v2:
X-46713076-A-G
gnomAD v4:
X-46853641-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46853641A>G , CM000685.2:g.46853641A>G | GRCh38 |
| NC_000023.10:g.46713076A>G , CM000685.1:g.46713076A>G | GRCh37 |
| NC_000023.9:g.46598020A>G | NCBI36 |
| NG_009107.1:g.21730A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218340.4:c.268A>G MANE Select | ENSP00000218340.3:p.Ile90Val | |
| ENST00000218340.3:c.268A>G | ENSP00000218340.3:p.Ile90Val | |
| NM_006915.2:c.268A>G | NP_008846.2:p.Ile90Val | |
| NM_006915.3:c.268A>G MANE Select | NP_008846.2:p.Ile90Val |