Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451205C>A , CM000665.2:g.52451205C>A | GRCh38 |
| NC_000003.11:g.52485221C>A , CM000665.1:g.52485221C>A | GRCh37 |
| NC_000003.10:g.52460261C>A | NCBI36 |
| NG_008963.1:g.7837G>T , LRG_378:g.7837G>T | |
| NG_033112.1:g.698C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.*70G>T MANE Select | ENSP00000232975.3:n.*70G>T | |
| ENST00000232975.7:c.*70G>T | ENSP00000232975.3:n.*70G>T | |
| NM_003280.2:c.*70G>T , LRG_378t1:c.*70G>T | NP_003271.1:n.*70G>T | |
| NM_003280.3:c.*70G>T MANE Select | NP_003271.1:n.*70G>T |