Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48705608G>T , CM000681.2:g.48705608G>T | GRCh38 |
| NC_000019.9:g.49208865G>T , CM000681.1:g.49208865G>T | GRCh37 |
| NC_000019.8:g.53900677G>T | NCBI36 |
| NG_007511.1:g.14638G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000511.6:c.*1620G>T MANE Select | NP_000502.4:n.*1620G>T |
| ENST00000425340.3:c.*1620G>T MANE Select | ENSP00000387498.2:n.*1620G>T |
| NM_000511.5:c.*1620G>T | NP_000502.4:n.*1620G>T |
| NM_001097638.2:c.*1620G>T | NP_001091107.1:n.*1620G>T |
| NM_001097638.3:c.*1620G>T | NP_001091107.1:n.*1620G>T |
| ENST00000391876.5:c.*512G>T | ENSP00000375748.4:n.*512G>T |
| ENST00000425340.2:c.*1620G>T | ENSP00000387498.2:n.*1620G>T |