Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20887984G>T , CM000684.2:g.20887984G>T | GRCh38 |
| NC_000022.10:g.21242272G>T , CM000684.1:g.21242272G>T | GRCh37 |
| NC_000022.9:g.19572272G>T | NCBI36 |
| NG_012152.1:g.33981G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*148G>T MANE Select | ENSP00000215730.6:n.*148G>T | |
| ENST00000215730.11:c.*148G>T | ENSP00000215730.6:n.*148G>T | |
| NM_004782.3:c.*148G>T | NP_004773.1:n.*148G>T | |
| NM_004782.4:c.*148G>T MANE Select | NP_004773.1:n.*148G>T |