Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45704456C>T , CM000669.2:g.45704456C>T | GRCh38 |
| NC_000007.13:g.45744055C>T , CM000669.1:g.45744055C>T | GRCh37 |
| NC_000007.12:g.45710580C>T | NCBI36 |
| NG_034198.1:g.135317C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021116.4:c.2719-62C>T MANE Select | NP_066939.1:n.2719-62C>T |
| ENST00000297323.12:c.2719-62C>T MANE Select | ENSP00000297323.7:n.2719-62C>T |
| NM_021116.2:c.2719-62C>T | NP_066939.1:n.2719-62C>T |
| NM_021116.3:c.2719-62C>T | NP_066939.1:n.2719-62C>T |
| ENST00000297323.11:c.2719-62C>T | ENSP00000297323.7:n.2719-62C>T |
| XM_005249584.2:c.2719-62C>T | XP_005249641.1:n.2719-62C>T |
| XM_005249584.3:c.2719-62C>T | XP_005249641.1:n.2719-62C>T |