Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65198563T= , CM000677.2:g.65198563T= | GRCh38 |
| NC_000015.9:g.65490901T= , CM000677.1:g.65490901T= | GRCh37 |
| NC_000015.8:g.63277954T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003613.4:c.1723A= MANE Select | NP_003604.4:p.Lys575= |
| ENST00000261883.6:c.1723A= MANE Select | ENSP00000261883.4:p.Lys575= |
| ENST00000261883.5:c.1723A= | ENSP00000261883.4:p.Lys575= |
| XM_017022678.2:c.1804A= | XP_016878167.1:p.Lys602= |
| XM_017022679.1:c.1651A= | XP_016878168.1:p.Lys551= |