Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420628T= , CM000666.2:g.99420628T= | GRCh38 |
| NC_000004.11:g.100341785T= , CM000666.1:g.100341785T= | GRCh37 |
| NC_000004.10:g.100560808T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.730A= MANE Select | ENSP00000414254.2:p.Lys244= | |
| ENST00000209665.8:c.766A= | ENSP00000209665.4:p.Lys256= | |
| ENST00000437033.6:c.730A= | ENSP00000414254.2:p.Lys244= | |
| ENST00000476959.5:c.790A= | ENSP00000420269.1:p.Lys264= | |
| ENST00000482593.5:c.559A= | ENSP00000420613.1:p.Lys187= | |
| NM_000673.4:c.766A= | NP_000664.2:p.Lys256= | |
| NM_001166504.1:c.790A= | NP_001159976.1:p.Lys264= | |
| NM_000673.7:c.730A= MANE Select | NP_000664.3:p.Lys244= | |
| NM_001166504.2:c.790A= | NP_001159976.1:p.Lys264= |