Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.96332352G>T , CM000677.2:g.96332352G>T | GRCh38 |
| NC_000015.9:g.96875581G>T , CM000677.1:g.96875581G>T | GRCh37 |
| NC_000015.8:g.94676585G>T | NCBI36 |
| NG_016753.1:g.11425G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394166.8:c.247G>T MANE Select | ENSP00000377721.3:p.Gly83Ter | |
| ENST00000394166.7:c.247G>T | ENSP00000377721.3:p.Gly83Ter | |
| ENST00000421109.6:c.44-1724G>T | ENSP00000401674.2:n.44-1724G>T | |
| NM_001145155.1:c.44-1724G>T | NP_001138627.1:n.44-1724G>T | |
| NM_021005.3:c.247G>T | NP_066285.1:p.Gly83Ter | |
| NM_021005.4:c.247G>T MANE Select | NP_066285.1:p.Gly83Ter | |
| NM_001145155.2:c.44-1724G>T | NP_001138627.1:n.44-1724G>T |