Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350227G= , CM000672.2:g.47350227G= | GRCh38 |
| NC_000010.10:g.48389135C= , CM000672.1:g.48389135C= | GRCh37 |
| NC_000010.9:g.48009141C= | NCBI36 |
| NG_029718.1:g.6857G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1743G= MANE Select | ENSP00000463151.1:p.Leu581= | |
| ENST00000584701.1:c.1743G= | ENSP00000463151.1:p.Leu581= | |
| NM_002900.2:c.1743G= | NP_002891.1:p.Leu581= | |
| NM_002900.3:c.1743G= MANE Select | NP_002891.1:p.Leu581= |