Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16124918C>T , CM000663.2:g.16124918C>T | GRCh38 |
| NC_000001.10:g.16451413C>T , CM000663.1:g.16451413C>T | GRCh37 |
| NC_000001.9:g.16324000C>T | NCBI36 |
| NG_021396.1:g.36170G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.*297G>A MANE Select | ENSP00000351209.5:n.*297G>A | |
| ENST00000358432.7:c.*297G>A | ENSP00000351209.5:n.*297G>A | |
| NM_004431.3:c.*297G>A | NP_004422.2:n.*297G>A | |
| NM_001329090.1:c.*297G>A | NP_001316019.1:n.*297G>A | |
| NM_004431.4:c.*297G>A | NP_004422.2:n.*297G>A | |
| NM_004431.5:c.*297G>A MANE Select | NP_004422.2:n.*297G>A | |
| NM_001329090.2:c.*297G>A | NP_001316019.1:n.*297G>A |