Linked Data
ClinVar Variation Id:
414013
dbSNP Id:
rs768169831
ExAC:
X:38147159 T / C
gnomAD v2:
X-38147159-T-C
gnomAD v4:
X-38287906-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38287906T>C , CM000685.2:g.38287906T>C | GRCh38 |
| NC_000023.10:g.38147159T>C , CM000685.1:g.38147159T>C | GRCh37 |
| NC_000023.9:g.38032103T>C | NCBI36 |
| NG_009553.1:g.44630A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494707.6:c.912A>G | ||
| ENST00000642170.1:n.1826+3053A>G | ||
| ENST00000642395.2:c.1708A>G | ENSP00000493468.2:p.Thr570Ala | |
| ENST00000642739.1:c.1572+3053A>G | ENSP00000493596.1:n.1572+3053A>G | |
| ENST00000644238.1:c.1386+3053A>G | ENSP00000496728.1:n.1386+3053A>G | |
| ENST00000644337.1:c.1522A>G | ENSP00000494557.1:p.Thr508Ala | |
| ENST00000645032.1:c.1708A>G MANE Select | ENSP00000495537.1:p.Thr570Ala | |
| ENST00000645124.1:c.1573-661A>G | ENSP00000496446.1:n.1573-661A>G | |
| ENST00000646020.1:c.*401A>G | ENSP00000494745.1:n.*401A>G | |
| ENST00000318842.11:c.1708A>G | ENSP00000322219.6:p.Thr570Ala | |
| ENST00000339363.7:c.1708A>G | ENSP00000343671.3:p.Thr570Ala | |
| ENST00000378505.6:c.1708A>G | ENSP00000367766.2:p.Thr570Ala | |
| ENST00000465127.1:c.172-378215T>C | ENSP00000417050.1:n.172-378215T>C | |
| ENST00000474584.5:c.*37+3053A>G | ENSP00000418926.1:n.*37+3053A>G | |
| ENST00000482855.5:c.1708A>G | ENSP00000419276.1:p.Thr570Ala | |
| ENST00000494707.5:c.139+3053A>G | ||
| NM_000328.2:c.1708A>G | NP_000319.1:p.Thr570Ala | |
| NM_001034853.1:c.1708A>G | NP_001030025.1:p.Thr570Ala | |
| XM_005272633.1:c.1572+3053A>G | XP_005272690.1:n.1572+3053A>G | |
| XM_011543940.1:c.1705A>G | XP_011542242.1:p.Thr569Ala | |
| XM_005272633.3:c.1572+3053A>G | XP_005272690.1:n.1572+3053A>G | |
| XM_011543940.3:c.1705A>G | XP_011542242.1:p.Thr569Ala | |
| XM_017029712.2:c.1569+3053A>G | XP_016885201.1:n.1569+3053A>G | |
| NM_001367245.1:c.1705A>G | NP_001354174.1:p.Thr569Ala | |
| NM_001367246.1:c.1522A>G | NP_001354175.1:p.Thr508Ala | |
| NM_001367247.1:c.1572+3053A>G | NP_001354176.1:n.1572+3053A>G | |
| NM_001367248.1:c.1602+3053A>G | NP_001354177.1:n.1602+3053A>G | |
| NM_001367249.1:c.1569+3053A>G | NP_001354178.1:n.1569+3053A>G | |
| NM_001367250.1:c.1569+3053A>G | NP_001354179.1:n.1569+3053A>G | |
| NM_001367251.1:c.1386+3053A>G | NP_001354180.1:n.1386+3053A>G | |
| NR_159803.1:n.2070A>G | ||
| NR_159804.1:n.1648+3053A>G | ||
| NR_159805.1:n.1714+3053A>G | ||
| NR_159806.1:n.1715-661A>G | ||
| NR_159807.1:n.1622+3053A>G | ||
| NR_159808.1:n.1826+3053A>G | ||
| NM_000328.3:c.1708A>G | NP_000319.1:p.Thr570Ala | |
| NM_001034853.2:c.1708A>G MANE Select | NP_001030025.1:p.Thr570Ala |