Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160425039T>G , CM000663.2:g.160425039T>G | GRCh38 |
| NC_000001.10:g.160394829T>G , CM000663.1:g.160394829T>G | GRCh37 |
| NC_000001.9:g.158661453T>G | NCBI36 |
| NG_023420.1:g.29466T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696602.1:c.1450-79T>G | ENSP00000512747.1:n.1450-79T>G | |
| ENST00000368061.3:c.1306-79T>G MANE Select | ENSP00000357040.2:n.1306-79T>G | |
| ENST00000368061.2:c.1306-79T>G | ENSP00000357040.2:n.1306-79T>G | |
| NM_020335.2:c.1306-79T>G | NP_065068.1:n.1306-79T>G | |
| XM_005245357.1:c.1306-79T>G | XP_005245414.1:n.1306-79T>G | |
| XM_011509804.1:c.1306-79T>G | XP_011508106.1:n.1306-79T>G | |
| NM_020335.3:c.1306-79T>G MANE Select | NP_065068.1:n.1306-79T>G |