Linked Data
dbSNP Id:
rs377747327
ExAC:
1:53712670 C / T
gnomAD v2:
1-53712670-C-T
gnomAD v3:
1-53246998-C-T
gnomAD v4:
1-53246998-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53246998C>T , CM000663.2:g.53246998C>T | GRCh38 |
| NC_000001.10:g.53712670C>T , CM000663.1:g.53712670C>T | GRCh37 |
| NC_000001.9:g.53485258C>T | NCBI36 |
| NG_011517.2:g.86152G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306052.12:c.*20G>A MANE Select | ENSP00000303634.6:n.*20G>A | |
| ENST00000465675.6:c.2546G>A | ENSP00000437009.2:n.2546G>A | |
| ENST00000480045.6:c.*1077G>A | ENSP00000433554.2:n.*1077G>A | |
| ENST00000529670.6:c.450G>A | ||
| ENST00000653217.1:c.2447G>A | ENSP00000499777.1:n.2447G>A | |
| ENST00000653810.1:c.1633G>A | ||
| ENST00000654834.1:n.2372G>A | ||
| ENST00000654947.1:c.414G>A | ENSP00000499442.1:n.414G>A | |
| ENST00000656486.1:c.2042G>A | ENSP00000499708.1:n.2042G>A | |
| ENST00000657047.1:c.756G>A | ||
| ENST00000657895.1:c.*20G>A | ENSP00000499764.1:n.*20G>A | |
| ENST00000658277.1:c.*20G>A | ENSP00000499550.1:n.*20G>A | |
| ENST00000658404.1:n.2240G>A | ||
| ENST00000661457.1:c.*2131G>A | ENSP00000499547.1:n.*2131G>A | |
| ENST00000662198.1:c.*20G>A | ENSP00000499355.1:n.*20G>A | |
| ENST00000662604.1:c.*20G>A | ENSP00000499486.1:n.*20G>A | |
| ENST00000662802.1:c.674G>A | ||
| ENST00000667377.1:c.2677-1017G>A | ENSP00000499405.1:n.2677-1017G>A | |
| ENST00000668071.1:c.2319G>A | ||
| ENST00000668448.1:c.*20G>A | ENSP00000499273.1:n.*20G>A | |
| ENST00000668991.1:n.2625G>A | ||
| ENST00000669432.1:n.9376G>A | ||
| ENST00000306052.10:c.*20G>A | ENSP00000303634.6:n.*20G>A | |
| ENST00000354412.7:c.2123G>A | ENSP00000346391.3:n.2123G>A | |
| ENST00000371454.6:c.*20G>A | ENSP00000360509.2:n.*20G>A | |
| ENST00000465675.5:c.*20G>A | ENSP00000437009.1:n.*20G>A | |
| ENST00000480045.5:c.*1854G>A | ENSP00000433554.1:n.*1854G>A | |
| ENST00000529670.5:c.385G>A | ||
| ENST00000613948.4:c.2120G>A | ENSP00000480025.1:n.2120G>A | |
| NM_001018054.2:c.*20G>A | NP_001018064.1:n.*20G>A | |
| NM_004631.4:c.*20G>A | NP_004622.2:n.*20G>A | |
| NM_017522.4:c.*20G>A | NP_059992.3:n.*20G>A | |
| NM_033300.3:c.*20G>A | NP_150643.2:n.*20G>A | |
| XM_005271173.2:c.*20G>A | XP_005271230.1:n.*20G>A | |
| XM_005271174.2:c.*20G>A | XP_005271231.1:n.*20G>A | |
| XM_005271175.2:c.*20G>A | XP_005271232.1:n.*20G>A | |
| XM_006710881.2:c.*20G>A | XP_006710944.1:n.*20G>A | |
| XM_006710882.2:c.*20G>A | XP_006710945.1:n.*20G>A | |
| XM_011542094.1:c.*20G>A | XP_011540396.1:n.*20G>A | |
| XM_011542095.1:c.*20G>A | XP_011540397.1:n.*20G>A | |
| XM_011542097.1:c.*20G>A | XP_011540399.1:n.*20G>A | |
| XM_005271173.4:c.*20G>A | XP_005271230.1:n.*20G>A | |
| XM_005271174.3:c.*20G>A | XP_005271231.1:n.*20G>A | |
| XM_005271175.3:c.*20G>A | XP_005271232.1:n.*20G>A | |
| XM_006710881.4:c.*20G>A | XP_006710944.1:n.*20G>A | |
| XM_006710882.4:c.*20G>A | XP_006710945.1:n.*20G>A | |
| XM_011542094.2:c.*20G>A | XP_011540396.1:n.*20G>A | |
| XM_011542095.2:c.*20G>A | XP_011540397.1:n.*20G>A | |
| XM_017002265.1:c.*20G>A | XP_016857754.1:n.*20G>A | |
| XM_017002266.2:c.*20G>A | XP_016857755.1:n.*20G>A | |
| XM_017002267.1:c.*20G>A | XP_016857756.1:n.*20G>A | |
| XM_017002268.1:c.*20G>A | XP_016857757.1:n.*20G>A | |
| NM_001018054.3:c.*20G>A | NP_001018064.1:n.*20G>A | |
| NM_004631.5:c.*20G>A MANE Select | NP_004622.2:n.*20G>A | |
| NM_017522.5:c.*20G>A | NP_059992.3:n.*20G>A | |
| NM_033300.4:c.*20G>A | NP_150643.2:n.*20G>A |