Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15930554G= , CM000663.2:g.15930554G= | GRCh38 |
| NC_000001.10:g.16257049G= , CM000663.1:g.16257049G= | GRCh37 |
| NC_000001.9:g.16129636G= | NCBI36 |
| NG_050663.1:g.87691G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438066.2:c.*5165G= | ENSP00000388021.2:n.*5165G= | |
| ENST00000375759.8:c.4314G= MANE Select | ENSP00000364912.3:p.Lys1438= | |
| ENST00000375759.7:c.4314G= | ENSP00000364912.3:p.Lys1438= | |
| NM_015001.2:c.4314G= | NP_055816.2:p.Lys1438= | |
| NM_015001.3:c.4314G= MANE Select | NP_055816.2:p.Lys1438= |