Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52453993G= , CM000665.2:g.52453993G= | GRCh38 |
| NC_000003.11:g.52488009G= , CM000665.1:g.52488009G= | GRCh37 |
| NC_000003.10:g.52463049G= | NCBI36 |
| NG_008963.1:g.5049C= , LRG_378:g.5049C= | |
| NG_033112.1:g.3486G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003280.3:c.23C= MANE Select | NP_003271.1:p.Ala8= |
| ENST00000232975.8:c.23C= MANE Select | ENSP00000232975.3:p.Ala8= |
| NM_003280.2:c.23C= , LRG_378t1:c.23C= | NP_003271.1:p.Ala8= |
| ENST00000232975.7:c.23C= | ENSP00000232975.3:p.Ala8= |