Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94014674T>G , CM000663.2:g.94014674T>G | GRCh38 |
| NC_000001.10:g.94480230T>G , CM000663.1:g.94480230T>G | GRCh37 |
| NC_000001.9:g.94252818T>G | NCBI36 |
| NG_009073.1:g.111476A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.5329A>C MANE Select | NP_000341.2:p.Met1777Leu |
| ENST00000370225.4:c.5329A>C MANE Select | ENSP00000359245.3:p.Met1777Leu |
| NM_000350.2:c.5329A>C | NP_000341.2:p.Met1777Leu |
| ENST00000370225.3:c.5329A>C | ENSP00000359245.3:p.Met1777Leu |
| ENST00000536513.5:c.1705A>C | ENSP00000439707.2:p.Met569Leu |