Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740246G>T , CM000666.2:g.67740246G>T | GRCh38 |
| NC_000004.11:g.68605964G>T , CM000666.1:g.68605964G>T | GRCh37 |
| NC_000004.10:g.68288559G>T | NCBI36 |
| NG_009293.1:g.20841C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.*234C>A MANE Select | ENSP00000226413.5:n.*234C>A | |
| ENST00000226413.4:c.*234C>A | ENSP00000226413.4:n.*234C>A | |
| NM_000406.2:c.*234C>A | NP_000397.1:n.*234C>A | |
| NM_001012763.1:c.*343C>A | NP_001012781.1:n.*343C>A | |
| NM_000406.3:c.*234C>A MANE Select | NP_000397.1:n.*234C>A | |
| NM_001012763.2:c.*343C>A | NP_001012781.1:n.*343C>A |