Linked Data
dbSNP Id:
rs17418283
gnomAD v2:
5-94154588-T-C
gnomAD v3:
5-94818883-T-C
gnomAD v4:
5-94818883-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.94818883T>C , CM000667.2:g.94818883T>C | GRCh38 |
| NC_000005.9:g.94154588T>C , CM000667.1:g.94154588T>C | GRCh37 |
| NC_000005.8:g.94180344T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000515393.6:c.2437-19751A>G MANE Select | ENSP00000424126.1:n.2437-19751A>G | |
| ENST00000312216.12:c.1774-19751A>G | ENSP00000308957.8:n.1774-19751A>G | |
| ENST00000429576.6:c.1636-39720A>G | ENSP00000391639.2:n.1636-39720A>G | |
| ENST00000505078.5:c.985-19751A>G | ENSP00000426417.1:n.985-19751A>G | |
| ENST00000508509.5:c.1597-19751A>G | ENSP00000423410.1:n.1597-19751A>G | |
| ENST00000512425.5:c.1420-19751A>G | ENSP00000431075.1:n.1420-19751A>G | |
| ENST00000515393.5:c.2437-19751A>G | ENSP00000424126.1:n.2437-19751A>G | |
| NM_001002796.3:c.1774-19751A>G | NP_001002796.1:n.1774-19751A>G | |
| NM_001297777.1:c.1636-39720A>G | NP_001284706.1:n.1636-39720A>G | |
| NM_024717.5:c.2437-19751A>G | NP_078993.4:n.2437-19751A>G | |
| XM_005272082.3:c.1819-19751A>G | XP_005272139.1:n.1819-19751A>G | |
| XM_005272083.3:c.1819-19751A>G | XP_005272140.1:n.1819-19751A>G | |
| XM_005272084.3:c.1741-19751A>G | XP_005272141.1:n.1741-19751A>G | |
| XM_005272086.3:c.1819-39720A>G | XP_005272143.1:n.1819-39720A>G | |
| XM_005272087.3:c.1819-39720A>G | XP_005272144.1:n.1819-39720A>G | |
| XM_005272088.3:c.1681-19751A>G | XP_005272145.1:n.1681-19751A>G | |
| XM_005272090.3:c.1636-19751A>G | XP_005272147.1:n.1636-19751A>G | |
| XM_006714692.2:c.1642-19751A>G | XP_006714755.1:n.1642-19751A>G | |
| XM_011543647.1:c.1780-19751A>G | XP_011541949.1:n.1780-19751A>G | |
| XM_011543648.1:c.1702-19751A>G | XP_011541950.1:n.1702-19751A>G | |
| XM_011543649.1:c.1660-19751A>G | XP_011541951.1:n.1660-19751A>G | |
| XM_011543650.1:c.1420-19751A>G | XP_011541952.1:n.1420-19751A>G | |
| XR_427720.2:n.2194-19751A>G | ||
| XR_948297.1:n.2195-39720A>G | ||
| XM_005272082.5:c.1819-19751A>G | XP_005272139.1:n.1819-19751A>G | |
| XM_005272090.4:c.1636-19751A>G | XP_005272147.1:n.1636-19751A>G | |
| XM_006714692.4:c.1642-19751A>G | XP_006714755.1:n.1642-19751A>G | |
| XM_011543649.3:c.1660-19751A>G | XP_011541951.1:n.1660-19751A>G | |
| XM_011543650.2:c.1420-19751A>G | XP_011541952.1:n.1420-19751A>G | |
| XM_017009855.2:c.1621-19751A>G | XP_016865344.1:n.1621-19751A>G | |
| XM_017009856.1:c.1774-19751A>G | XP_016865345.1:n.1774-19751A>G | |
| XM_017009857.1:c.1582-19751A>G | XP_016865346.1:n.1582-19751A>G | |
| XM_017009858.2:c.1543-19751A>G | XP_016865347.1:n.1543-19751A>G | |
| XM_017009859.1:c.1660-39720A>G | XP_016865348.1:n.1660-39720A>G | |
| XM_017009860.1:c.1696-19751A>G | XP_016865349.1:n.1696-19751A>G | |
| XM_017009861.2:c.1522-19751A>G | XP_016865350.1:n.1522-19751A>G | |
| XM_017009862.2:c.1483-19751A>G | XP_016865351.1:n.1483-19751A>G | |
| XM_017009863.1:c.1597-19751A>G | XP_016865352.1:n.1597-19751A>G | |
| XM_017009864.2:c.1522-19751A>G | XP_016865353.1:n.1522-19751A>G | |
| XR_001742264.2:n.2296-19751A>G | ||
| XR_001742266.1:n.1799-19751A>G | ||
| XR_001742267.1:n.1760-19751A>G | ||
| NM_001002796.5:c.1774-19751A>G | NP_001002796.1:n.1774-19751A>G | |
| NM_001297777.3:c.1636-39720A>G | NP_001284706.1:n.1636-39720A>G | |
| NM_001393535.1:c.2359-19751A>G | NP_001380464.1:n.2359-19751A>G | |
| NM_001393536.1:c.2299-19751A>G | NP_001380465.1:n.2299-19751A>G | |
| NM_001393537.1:c.2260-19751A>G | NP_001380466.1:n.2260-19751A>G | |
| NM_001393538.1:c.1774-19751A>G | NP_001380467.1:n.1774-19751A>G | |
| NM_001393539.1:c.1696-19751A>G | NP_001380468.1:n.1696-19751A>G | |
| NM_001393540.1:c.1774-39720A>G | NP_001380469.1:n.1774-39720A>G | |
| NM_001393541.1:c.1642-19751A>G | NP_001380470.1:n.1642-19751A>G | |
| NM_001393542.1:c.1636-19751A>G | NP_001380471.1:n.1636-19751A>G | |
| NM_001393543.1:c.1636-19751A>G | NP_001380472.1:n.1636-19751A>G | |
| NM_001393544.1:c.1597-19751A>G | NP_001380473.1:n.1597-19751A>G | |
| NM_001393545.1:c.1591-19751A>G | NP_001380474.1:n.1591-19751A>G | |
| NM_001393546.1:c.1675-39720A>G | NP_001380475.1:n.1675-39720A>G | |
| NM_001393547.1:c.1657-39720A>G | NP_001380476.1:n.1657-39720A>G | |
| NM_001393548.1:c.1636-39720A>G | NP_001380477.1:n.1636-39720A>G | |
| NM_001393551.1:c.511-39720A>G | NP_001380480.1:n.511-39720A>G | |
| NM_024717.7:c.2437-19751A>G MANE Select | NP_078993.4:n.2437-19751A>G |