Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451259G>T , CM000665.2:g.52451259G>T | GRCh38 |
| NC_000003.11:g.52485275G>T , CM000665.1:g.52485275G>T | GRCh37 |
| NC_000003.10:g.52460315G>T | NCBI36 |
| NG_008963.1:g.7783C>A , LRG_378:g.7783C>A | |
| NG_033112.1:g.752G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.*16C>A MANE Select | ENSP00000232975.3:n.*16C>A | |
| ENST00000232975.7:c.*16C>A | ENSP00000232975.3:n.*16C>A | |
| NM_003280.2:c.*16C>A , LRG_378t1:c.*16C>A | NP_003271.1:n.*16C>A | |
| NM_003280.3:c.*16C>A MANE Select | NP_003271.1:n.*16C>A |