Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1232654C= , CM000663.2:g.1232654C= | GRCh38 |
| NC_000001.10:g.1168034C= , CM000663.1:g.1168034C= | GRCh37 |
| NC_000001.9:g.1157897C= | NCBI36 |
| NG_030007.1:g.4414G= | |
| NG_033265.1:g.5406C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379198.5:c.376C= MANE Select | ENSP00000368496.2:p.Arg126= | |
| ENST00000379198.3:c.376C= | ENSP00000368496.2:p.Arg126= | |
| NM_080605.3:c.376C= | NP_542172.2:p.Arg126= | |
| NM_080605.4:c.376C= MANE Select | NP_542172.2:p.Arg126= |