Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168293152G>C , CM000663.2:g.168293152G>C | GRCh38 |
| NC_000001.10:g.168262390G>C , CM000663.1:g.168262390G>C | GRCh37 |
| NC_000001.9:g.166529014G>C | NCBI36 |
| NG_008244.1:g.17113G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367821.8:c.477G>C MANE Select | ENSP00000356795.3:p.Leu159Phe | |
| ENST00000367821.7:c.477G>C | ENSP00000356795.3:p.Leu159Phe | |
| ENST00000431969.5:c.274G>C | ||
| NM_005149.2:c.477G>C | NP_005140.1:p.Leu159Phe | |
| NM_005149.3:c.477G>C MANE Select | NP_005140.1:p.Leu159Phe |