Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52453993G>C , CM000665.2:g.52453993G>C | GRCh38 |
| NC_000003.11:g.52488009G>C , CM000665.1:g.52488009G>C | GRCh37 |
| NC_000003.10:g.52463049G>C | NCBI36 |
| NG_008963.1:g.5049C>G , LRG_378:g.5049C>G | |
| NG_033112.1:g.3486G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000232975.8:c.23C>G MANE Select | ENSP00000232975.3:p.Ala8Gly | |
| ENST00000232975.7:c.23C>G | ENSP00000232975.3:p.Ala8Gly | |
| NM_003280.2:c.23C>G , LRG_378t1:c.23C>G | NP_003271.1:p.Ala8Gly | |
| NM_003280.3:c.23C>G MANE Select | NP_003271.1:p.Ala8Gly |