Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52492669A>G , CM000674.2:g.52492669A>G | GRCh38 |
| NC_000012.11:g.52886453A>G , CM000674.1:g.52886453A>G | GRCh37 |
| NC_000012.10:g.51172720A>G | NCBI36 |
| NG_008298.1:g.5729T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005554.4:c.520T>C MANE Select | NP_005545.1:p.Phe174Leu |
| ENST00000330722.7:c.520T>C MANE Select | ENSP00000369317.3:p.Phe174Leu |
| NM_005554.3:c.520T>C | NP_005545.1:p.Phe174Leu |
| ENST00000330722.6:c.520T>C | ENSP00000369317.3:p.Phe174Leu |
| ENST00000549898.5:n.41T>C |