Linked Data
ClinVar Variation Id:
501957
dbSNP Id:
rs757714144
ExAC:
X:38158309 T / A
gnomAD v2:
X-38158309-T-A
gnomAD v3:
X-38299056-T-A
gnomAD v4:
X-38299056-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38299056T>A , CM000685.2:g.38299056T>A | GRCh38 |
| NC_000023.10:g.38158309T>A , CM000685.1:g.38158309T>A | GRCh37 |
| NC_000023.9:g.38043253T>A | NCBI36 |
| NG_009553.1:g.33480A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494707.6:c.349A>T | ||
| ENST00000642170.1:n.1399A>T | ||
| ENST00000642395.2:c.1145A>T | ENSP00000493468.2:p.Asp382Val | |
| ENST00000642558.1:c.1052A>T | ENSP00000496427.1:p.Asp351Val | |
| ENST00000642739.1:c.1145A>T | ENSP00000493596.1:p.Asp382Val | |
| ENST00000644238.1:c.1060-1604A>T | ENSP00000496728.1:n.1060-1604A>T | |
| ENST00000644337.1:c.1060-1604A>T | ENSP00000494557.1:n.1060-1604A>T | |
| ENST00000645032.1:c.1145A>T MANE Select | ENSP00000495537.1:p.Asp382Val | |
| ENST00000645124.1:c.1145A>T | ENSP00000496446.1:p.Asp382Val | |
| ENST00000646020.1:c.1205A>T | ENSP00000494745.1:p.Asp402Val | |
| ENST00000318842.11:c.1145A>T | ENSP00000322219.6:p.Asp382Val | |
| ENST00000339363.7:c.1145A>T | ENSP00000343671.3:p.Asp382Val | |
| ENST00000378505.6:c.1145A>T | ENSP00000367766.2:p.Asp382Val | |
| ENST00000464437.1:c.211A>T | ||
| ENST00000465127.1:c.172-367065T>A | ENSP00000417050.1:n.172-367065T>A | |
| ENST00000474584.5:c.1145A>T | ENSP00000418926.1:p.Asp382Val | |
| ENST00000482855.5:c.1145A>T | ENSP00000419276.1:p.Asp382Val | |
| ENST00000494841.1:n.408A>T | ||
| NM_000328.2:c.1145A>T | NP_000319.1:p.Asp382Val | |
| NM_001034853.1:c.1145A>T | NP_001030025.1:p.Asp382Val | |
| XM_005272633.1:c.1145A>T | XP_005272690.1:p.Asp382Val | |
| XM_011543940.1:c.1142A>T | XP_011542242.1:p.Asp381Val | |
| XM_005272633.3:c.1145A>T | XP_005272690.1:p.Asp382Val | |
| XM_011543940.3:c.1142A>T | XP_011542242.1:p.Asp381Val | |
| XM_017029712.2:c.1142A>T | XP_016885201.1:p.Asp381Val | |
| NM_001367245.1:c.1142A>T | NP_001354174.1:p.Asp381Val | |
| NM_001367246.1:c.1060-1604A>T | NP_001354175.1:n.1060-1604A>T | |
| NM_001367247.1:c.1145A>T | NP_001354176.1:p.Asp382Val | |
| NM_001367248.1:c.1175A>T | NP_001354177.1:p.Asp392Val | |
| NM_001367249.1:c.1142A>T | NP_001354178.1:p.Asp381Val | |
| NM_001367250.1:c.1142A>T | NP_001354179.1:p.Asp381Val | |
| NM_001367251.1:c.1060-1604A>T | NP_001354180.1:n.1060-1604A>T | |
| NR_159803.1:n.1347A>T | ||
| NR_159804.1:n.1196A>T | ||
| NR_159805.1:n.1287A>T | ||
| NR_159806.1:n.1287A>T | ||
| NR_159807.1:n.1287A>T | ||
| NR_159808.1:n.1399A>T | ||
| NM_000328.3:c.1145A>T | NP_000319.1:p.Asp382Val | |
| NM_001034853.2:c.1145A>T MANE Select | NP_001030025.1:p.Asp382Val |