gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.61432295G>T , CM000663.2:g.61432295G>T | GRCh38 |
| NC_000001.10:g.61897967G>T , CM000663.1:g.61897967G>T | GRCh37 |
| NC_000001.9:g.61670555G>T | NCBI36 |
| NG_011787.1:g.360022G>T | |
| NG_011787.2:g.360022G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482020.2:c.1460-23008G>T | ENSP00000474806.2:n.1460-23008G>T | |
| ENST00000699964.1:c.1397-23008G>T | ENSP00000514720.1:n.1397-23008G>T | |
| ENST00000699965.1:c.1421-11228G>T | ENSP00000514721.1:n.1421-11228G>T | |
| ENST00000699966.1:c.1512+5739G>T | ENSP00000514722.1:n.1512+5739G>T | |
| ENST00000699967.1:c.1175-23008G>T | ENSP00000514723.1:n.1175-23008G>T | |
| ENST00000699968.1:c.987+5739G>T | ENSP00000514724.1:n.987+5739G>T | |
| ENST00000699986.1:c.1446+5739G>T | ENSP00000514739.1:n.1446+5739G>T | |
| ENST00000699987.1:c.1635+5739G>T | ENSP00000514740.1:n.1635+5739G>T | |
| ENST00000403491.8:c.1512+5739G>T MANE Select | ENSP00000384523.3:n.1512+5739G>T | |
| ENST00000655770.1:c.*559+5739G>T | ENSP00000499326.1:n.*559+5739G>T | |
| ENST00000657234.1:c.744+5739G>T | ENSP00000499693.1:n.744+5739G>T | |
| ENST00000662015.1:c.*1136+5739G>T | ENSP00000499312.1:n.*1136+5739G>T | |
| ENST00000663597.1:c.653-23008G>T | ENSP00000499597.1:n.653-23008G>T | |
| ENST00000664149.1:c.1512+5739G>T | ENSP00000499651.1:n.1512+5739G>T | |
| ENST00000664495.1:c.*1604+5739G>T | ENSP00000499306.1:n.*1604+5739G>T | |
| ENST00000670151.1:c.*579+5739G>T | ENSP00000499729.1:n.*579+5739G>T | |
| ENST00000357977.5:c.456+5739G>T | ENSP00000474462.1:n.456+5739G>T | |
| ENST00000371184.6:c.1125+5739G>T | ENSP00000360226.1:n.1125+5739G>T | |
| ENST00000371185.6:c.1446+5739G>T | ENSP00000360227.1:n.1446+5739G>T | |
| ENST00000371187.7:c.1421-23008G>T | ENSP00000360229.3:n.1421-23008G>T | |
| ENST00000371189.8:c.1647+5739G>T | ENSP00000360231.3:n.1647+5739G>T | |
| ENST00000371191.5:c.1581+5739G>T | ENSP00000360233.1:n.1581+5739G>T | |
| ENST00000403491.7:c.1512+5739G>T | ENSP00000384523.3:n.1512+5739G>T | |
| ENST00000407417.7:c.1488+5739G>T | ENSP00000384680.2:n.1488+5739G>T | |
| ENST00000485903.6:c.1383+5739G>T | ENSP00000419785.2:n.1383+5739G>T | |
| ENST00000493627.1:c.57-7156G>T | ||
| NM_001134673.3:c.1512+5739G>T | NP_001128145.1:n.1512+5739G>T | |
| NM_001145511.1:c.1488+5739G>T | NP_001138983.1:n.1488+5739G>T | |
| NM_001145512.1:c.1647+5739G>T | NP_001138984.1:n.1647+5739G>T | |
| NM_005595.4:c.1421-23008G>T | NP_005586.1:n.1421-23008G>T | |
| XM_011541512.1:c.1566+5739G>T | XP_011539814.1:n.1566+5739G>T | |
| XM_011541513.1:c.1566+5739G>T | XP_011539815.1:n.1566+5739G>T | |
| XM_011541514.1:c.1542+5739G>T | XP_011539816.1:n.1542+5739G>T | |
| XM_011541515.1:c.1475-23008G>T | XP_011539817.1:n.1475-23008G>T | |
| XM_011541512.3:c.1566+5739G>T | XP_011539814.1:n.1566+5739G>T | |
| XM_011541514.3:c.1542+5739G>T | XP_011539816.1:n.1542+5739G>T | |
| XM_011541515.3:c.1475-23008G>T | XP_011539817.1:n.1475-23008G>T | |
| XM_017001362.2:c.1397-23008G>T | XP_016856851.1:n.1397-23008G>T | |
| XM_017001363.1:c.798+5739G>T | XP_016856852.1:n.798+5739G>T | |
| NM_001134673.4:c.1512+5739G>T MANE Select | NP_001128145.1:n.1512+5739G>T | |
| NM_001145511.2:c.1488+5739G>T | NP_001138983.1:n.1488+5739G>T | |
| NM_001145512.2:c.1647+5739G>T | NP_001138984.1:n.1647+5739G>T | |
| NM_005595.5:c.1421-23008G>T | NP_005586.1:n.1421-23008G>T |