Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740257T>C , CM000666.2:g.67740257T>C | GRCh38 |
| NC_000004.11:g.68605975T>C , CM000666.1:g.68605975T>C | GRCh37 |
| NC_000004.10:g.68288570T>C | NCBI36 |
| NG_009293.1:g.20830A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.*223A>G MANE Select | ENSP00000226413.5:n.*223A>G | |
| ENST00000226413.4:c.*223A>G | ENSP00000226413.4:n.*223A>G | |
| NM_000406.2:c.*223A>G | NP_000397.1:n.*223A>G | |
| NM_001012763.1:c.*332A>G | NP_001012781.1:n.*332A>G | |
| NM_000406.3:c.*223A>G MANE Select | NP_000397.1:n.*223A>G | |
| NM_001012763.2:c.*332A>G | NP_001012781.1:n.*332A>G |