Linked Data
dbSNP Id:
rs9436640
gnomAD v2:
1-61873677-T-G
gnomAD v3:
1-61408005-T-G
gnomAD v4:
1-61408005-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.61408005T>G , CM000663.2:g.61408005T>G | GRCh38 |
| NC_000001.10:g.61873677T>G , CM000663.1:g.61873677T>G | GRCh37 |
| NC_000001.9:g.61646265T>G | NCBI36 |
| NG_011787.1:g.335732T>G | |
| NG_011787.2:g.335732T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000482020.2:c.1459+1278T>G | ENSP00000474806.2:n.1459+1278T>G | |
| ENST00000699964.1:c.1396+1278T>G | ENSP00000514720.1:n.1396+1278T>G | |
| ENST00000699965.1:c.1420+1278T>G | ENSP00000514721.1:n.1420+1278T>G | |
| ENST00000699966.1:c.1420+1278T>G | ENSP00000514722.1:n.1420+1278T>G | |
| ENST00000699967.1:c.1174+1278T>G | ENSP00000514723.1:n.1174+1278T>G | |
| ENST00000699968.1:c.895+1278T>G | ENSP00000514724.1:n.895+1278T>G | |
| ENST00000699986.1:c.1354+1278T>G | ENSP00000514739.1:n.1354+1278T>G | |
| ENST00000699987.1:c.1543+1278T>G | ENSP00000514740.1:n.1543+1278T>G | |
| ENST00000403491.8:c.1420+1278T>G MANE Select | ENSP00000384523.3:n.1420+1278T>G | |
| ENST00000655770.1:c.*467+1278T>G | ENSP00000499326.1:n.*467+1278T>G | |
| ENST00000657234.1:c.652+1278T>G | ENSP00000499693.1:n.652+1278T>G | |
| ENST00000662015.1:c.*1044+1278T>G | ENSP00000499312.1:n.*1044+1278T>G | |
| ENST00000663597.1:c.652+1278T>G | ENSP00000499597.1:n.652+1278T>G | |
| ENST00000664149.1:c.1420+1278T>G | ENSP00000499651.1:n.1420+1278T>G | |
| ENST00000664495.1:c.*1512+1278T>G | ENSP00000499306.1:n.*1512+1278T>G | |
| ENST00000670151.1:c.*487+1278T>G | ENSP00000499729.1:n.*487+1278T>G | |
| ENST00000357977.5:c.364+1278T>G | ENSP00000474462.1:n.364+1278T>G | |
| ENST00000371184.6:c.1033+1278T>G | ENSP00000360226.1:n.1033+1278T>G | |
| ENST00000371185.6:c.1354+1278T>G | ENSP00000360227.1:n.1354+1278T>G | |
| ENST00000371187.7:c.1420+1278T>G | ENSP00000360229.3:n.1420+1278T>G | |
| ENST00000371189.8:c.1555+1278T>G | ENSP00000360231.3:n.1555+1278T>G | |
| ENST00000371191.5:c.1489+1278T>G | ENSP00000360233.1:n.1489+1278T>G | |
| ENST00000403491.7:c.1420+1278T>G | ENSP00000384523.3:n.1420+1278T>G | |
| ENST00000407417.7:c.1396+1278T>G | ENSP00000384680.2:n.1396+1278T>G | |
| ENST00000485903.6:c.1291+1278T>G | ENSP00000419785.2:n.1291+1278T>G | |
| ENST00000493627.1:c.56+1278T>G | ||
| NM_001134673.3:c.1420+1278T>G | NP_001128145.1:n.1420+1278T>G | |
| NM_001145511.1:c.1396+1278T>G | NP_001138983.1:n.1396+1278T>G | |
| NM_001145512.1:c.1555+1278T>G | NP_001138984.1:n.1555+1278T>G | |
| NM_005595.4:c.1420+1278T>G | NP_005586.1:n.1420+1278T>G | |
| XM_011541512.1:c.1474+1278T>G | XP_011539814.1:n.1474+1278T>G | |
| XM_011541513.1:c.1474+1278T>G | XP_011539815.1:n.1474+1278T>G | |
| XM_011541514.1:c.1450+1278T>G | XP_011539816.1:n.1450+1278T>G | |
| XM_011541515.1:c.1474+1278T>G | XP_011539817.1:n.1474+1278T>G | |
| XM_011541512.3:c.1474+1278T>G | XP_011539814.1:n.1474+1278T>G | |
| XM_011541514.3:c.1450+1278T>G | XP_011539816.1:n.1450+1278T>G | |
| XM_011541515.3:c.1474+1278T>G | XP_011539817.1:n.1474+1278T>G | |
| XM_017001362.2:c.1396+1278T>G | XP_016856851.1:n.1396+1278T>G | |
| XM_017001363.1:c.706+1278T>G | XP_016856852.1:n.706+1278T>G | |
| NM_001134673.4:c.1420+1278T>G MANE Select | NP_001128145.1:n.1420+1278T>G | |
| NM_001145511.2:c.1396+1278T>G | NP_001138983.1:n.1396+1278T>G | |
| NM_001145512.2:c.1555+1278T>G | NP_001138984.1:n.1555+1278T>G | |
| NM_005595.5:c.1420+1278T>G | NP_005586.1:n.1420+1278T>G |