Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.40688642G>A , CM000682.2:g.40688642G>A | GRCh38 |
| NC_000020.10:g.39317282G>A , CM000682.1:g.39317282G>A | GRCh37 |
| NC_000020.9:g.38750696G>A | NCBI36 |
| NG_023378.1:g.5595C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005461.5:c.209C>T MANE Select | NP_005452.2:p.Ser70Leu |
| ENST00000373313.3:c.209C>T MANE Select | ENSP00000362410.2:p.Ser70Leu |
| NM_005461.4:c.209C>T | NP_005452.2:p.Ser70Leu |
| ENST00000373313.2:c.209C>T | ENSP00000362410.2:p.Ser70Leu |