Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740259T>G , CM000666.2:g.67740259T>G | GRCh38 |
| NC_000004.11:g.68605977T>G , CM000666.1:g.68605977T>G | GRCh37 |
| NC_000004.10:g.68288572T>G | NCBI36 |
| NG_009293.1:g.20828A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.*221A>C MANE Select | ENSP00000226413.5:n.*221A>C | |
| ENST00000226413.4:c.*221A>C | ENSP00000226413.4:n.*221A>C | |
| NM_000406.2:c.*221A>C | NP_000397.1:n.*221A>C | |
| NM_001012763.1:c.*330A>C | NP_001012781.1:n.*330A>C | |
| NM_000406.3:c.*221A>C MANE Select | NP_000397.1:n.*221A>C | |
| NM_001012763.2:c.*330A>C | NP_001012781.1:n.*330A>C |