Linked Data
ClinVar Variation Id:
281508
dbSNP Id:
rs202154504
ExAC:
X:38147158 G / A
gnomAD v2:
X-38147158-G-A
gnomAD v3:
X-38287905-G-A
gnomAD v4:
X-38287905-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38287905G>A , CM000685.2:g.38287905G>A | GRCh38 |
| NC_000023.10:g.38147158G>A , CM000685.1:g.38147158G>A | GRCh37 |
| NC_000023.9:g.38032102G>A | NCBI36 |
| NG_009553.1:g.44631C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494707.6:c.913C>T | ||
| ENST00000642170.1:n.1826+3054C>T | ||
| ENST00000642395.2:c.1709C>T | ENSP00000493468.2:p.Thr570Met | |
| ENST00000642739.1:c.1572+3054C>T | ENSP00000493596.1:n.1572+3054C>T | |
| ENST00000644238.1:c.1386+3054C>T | ENSP00000496728.1:n.1386+3054C>T | |
| ENST00000644337.1:c.1523C>T | ENSP00000494557.1:p.Thr508Met | |
| ENST00000645032.1:c.1709C>T MANE Select | ENSP00000495537.1:p.Thr570Met | |
| ENST00000645124.1:c.1573-660C>T | ENSP00000496446.1:n.1573-660C>T | |
| ENST00000646020.1:c.*402C>T | ENSP00000494745.1:n.*402C>T | |
| ENST00000318842.11:c.1709C>T | ENSP00000322219.6:p.Thr570Met | |
| ENST00000339363.7:c.1709C>T | ENSP00000343671.3:p.Thr570Met | |
| ENST00000378505.6:c.1709C>T | ENSP00000367766.2:p.Thr570Met | |
| ENST00000465127.1:c.172-378216G>A | ENSP00000417050.1:n.172-378216G>A | |
| ENST00000474584.5:c.*37+3054C>T | ENSP00000418926.1:n.*37+3054C>T | |
| ENST00000482855.5:c.1709C>T | ENSP00000419276.1:p.Thr570Met | |
| ENST00000494707.5:c.139+3054C>T | ||
| NM_000328.2:c.1709C>T | NP_000319.1:p.Thr570Met | |
| NM_001034853.1:c.1709C>T | NP_001030025.1:p.Thr570Met | |
| XM_005272633.1:c.1572+3054C>T | XP_005272690.1:n.1572+3054C>T | |
| XM_011543940.1:c.1706C>T | XP_011542242.1:p.Thr569Met | |
| XM_005272633.3:c.1572+3054C>T | XP_005272690.1:n.1572+3054C>T | |
| XM_011543940.3:c.1706C>T | XP_011542242.1:p.Thr569Met | |
| XM_017029712.2:c.1569+3054C>T | XP_016885201.1:n.1569+3054C>T | |
| NM_001367245.1:c.1706C>T | NP_001354174.1:p.Thr569Met | |
| NM_001367246.1:c.1523C>T | NP_001354175.1:p.Thr508Met | |
| NM_001367247.1:c.1572+3054C>T | NP_001354176.1:n.1572+3054C>T | |
| NM_001367248.1:c.1602+3054C>T | NP_001354177.1:n.1602+3054C>T | |
| NM_001367249.1:c.1569+3054C>T | NP_001354178.1:n.1569+3054C>T | |
| NM_001367250.1:c.1569+3054C>T | NP_001354179.1:n.1569+3054C>T | |
| NM_001367251.1:c.1386+3054C>T | NP_001354180.1:n.1386+3054C>T | |
| NR_159803.1:n.2071C>T | ||
| NR_159804.1:n.1648+3054C>T | ||
| NR_159805.1:n.1714+3054C>T | ||
| NR_159806.1:n.1715-660C>T | ||
| NR_159807.1:n.1622+3054C>T | ||
| NR_159808.1:n.1826+3054C>T | ||
| NM_000328.3:c.1709C>T | NP_000319.1:p.Thr570Met | |
| NM_001034853.2:c.1709C>T MANE Select | NP_001030025.1:p.Thr570Met |