Linked Data
ClinVar Variation Id:
990709
dbSNP Id:
rs748850424
ExAC:
X:107924174 A / G
gnomAD v2:
X-107924174-A-G
gnomAD v3:
X-108680944-A-G
gnomAD v4:
X-108680944-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108680944A>G , CM000685.2:g.108680944A>G | GRCh38 |
| NC_000023.10:g.107924174A>G , CM000685.1:g.107924174A>G | GRCh37 |
| NC_000023.9:g.107810830A>G | NCBI36 |
| NG_011977.1:g.246021A>G | |
| NG_011977.2:g.246021A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.4075A>G MANE Select | ENSP00000331902.7:p.Ile1359Val | |
| ENST00000361603.7:c.4057A>G | ENSP00000354505.2:p.Ile1353Val | |
| ENST00000510690.2:n.569A>G | ||
| ENST00000328300.10:c.4075A>G | ENSP00000331902.6:p.Ile1359Val | |
| ENST00000361603.6:c.4057A>G | ENSP00000354505.2:p.Ile1353Val | |
| ENST00000489230.1:n.478A>G | ||
| NM_000495.4:c.4057A>G | NP_000486.1:p.Ile1353Val | |
| NM_033380.2:c.4075A>G | NP_203699.1:p.Ile1359Val | |
| XM_005262070.2:c.4066A>G | XP_005262127.1:p.Ile1356Val | |
| XM_006724616.2:c.4075A>G | XP_006724679.1:p.Ile1359Val | |
| XM_011530849.1:c.3751A>G | XP_011529151.1:p.Ile1251Val | |
| XM_011530851.1:c.1648A>G | XP_011529153.1:p.Ile550Val | |
| XM_011530849.2:c.4090A>G | XP_011529151.2:p.Ile1364Val | |
| XM_017029259.2:c.4081A>G | XP_016884748.1:p.Ile1361Val | |
| XM_017029260.1:c.4072A>G | XP_016884749.1:p.Ile1358Val | |
| XM_017029263.2:c.2410A>G | XP_016884752.1:p.Ile804Val | |
| NM_000495.5:c.4057A>G | NP_000486.1:p.Ile1353Val | |
| NM_033380.3:c.4075A>G MANE Select | NP_203699.1:p.Ile1359Val |