Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52492667A>C , CM000674.2:g.52492667A>C | GRCh38 |
| NC_000012.11:g.52886451A>C , CM000674.1:g.52886451A>C | GRCh37 |
| NC_000012.10:g.51172718A>C | NCBI36 |
| NG_008298.1:g.5731T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005554.4:c.522T>G MANE Select | NP_005545.1:p.Phe174Leu |
| ENST00000330722.7:c.522T>G MANE Select | ENSP00000369317.3:p.Phe174Leu |
| NM_005554.3:c.522T>G | NP_005545.1:p.Phe174Leu |
| ENST00000330722.6:c.522T>G | ENSP00000369317.3:p.Phe174Leu |
| ENST00000549898.5:n.43T>G |