Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451292T>G , CM000665.2:g.52451292T>G | GRCh38 |
| NC_000003.11:g.52485308T>G , CM000665.1:g.52485308T>G | GRCh37 |
| NC_000003.10:g.52460348T>G | NCBI36 |
| NG_008963.1:g.7750A>C , LRG_378:g.7750A>C | |
| NG_033112.1:g.785T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.469A>C MANE Select | ENSP00000232975.3:p.Met157Leu | |
| ENST00000232975.7:c.469A>C | ENSP00000232975.3:p.Met157Leu | |
| NM_003280.2:c.469A>C , LRG_378t1:c.469A>C | NP_003271.1:p.Met157Leu | |
| NM_003280.3:c.469A>C MANE Select | NP_003271.1:p.Met157Leu |