Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144225C>T , CM000670.2:g.38144225C>T | GRCh38 |
| NC_000008.10:g.38001743C>T , CM000670.1:g.38001743C>T | GRCh37 |
| NC_000008.9:g.38120900C>T | NCBI36 |
| NG_011827.1:g.11858G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.*48G>A MANE Select | ENSP00000276449.3:n.*48G>A | |
| ENST00000276449.8:c.*48G>A | ENSP00000276449.3:n.*48G>A | |
| ENST00000520114.1:n.2875G>A | ||
| ENST00000522050.1:c.748G>A | ||
| NM_000349.2:c.*48G>A | NP_000340.2:n.*48G>A | |
| XM_006716392.1:c.812G>A | XP_006716455.1:p.Arg271His | |
| NM_000349.3:c.*48G>A MANE Select | NP_000340.2:n.*48G>A |