Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1232927G>T , CM000663.2:g.1232927G>T | GRCh38 |
| NC_000001.10:g.1168307G>T , CM000663.1:g.1168307G>T | GRCh37 |
| NC_000001.9:g.1158170G>T | NCBI36 |
| NG_030007.1:g.4141C>A | |
| NG_033265.1:g.5679G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_080605.4:c.649G>T MANE Select | NP_542172.2:p.Gly217Cys |
| ENST00000379198.5:c.649G>T MANE Select | ENSP00000368496.2:p.Gly217Cys |
| NM_080605.3:c.649G>T | NP_542172.2:p.Gly217Cys |
| ENST00000379198.3:c.649G>T | ENSP00000368496.2:p.Gly217Cys |