Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12022869A= , CM000663.2:g.12022869A= | GRCh38 |
| NC_000001.10:g.12082926A= , CM000663.1:g.12082926A= | GRCh37 |
| NC_000001.9:g.12005513A= | NCBI36 |
| NG_030022.1:g.8628A= | |
| NG_030022.2:g.8628A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021933.4:c.499A= MANE Select | NP_068752.2:p.Lys167= |
| ENST00000235332.6:c.499A= MANE Select | ENSP00000235332.4:p.Lys167= |
| NM_021933.3:c.499A= | NP_068752.2:p.Lys167= |
| ENST00000235332.5:c.499A= | ENSP00000235332.4:p.Lys167= |
| ENST00000466860.5:n.258A= | |
| ENST00000478749.5:n.472A= | |
| ENST00000498685.5:n.6A= | |
| XM_005263487.2:c.499A= | XP_005263544.1:p.Lys167= |
| XM_005263487.4:c.499A= | XP_005263544.1:p.Lys167= |
| XM_011541895.1:c.499A= | XP_011540197.1:p.Lys167= |
| XM_011541896.1:c.499A= | XP_011540198.1:p.Lys167= |