Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23275723C>A , CM000676.2:g.23275723C>A | GRCh38 |
| NC_000014.8:g.23744932C>A , CM000676.1:g.23744932C>A | GRCh37 |
| NC_000014.7:g.22814772C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561013.3:c.1511G>T | ENSP00000453979.1:p.Arg504Leu | |
| ENST00000357460.7:c.1505G>T MANE Select | ENSP00000350049.4:p.Arg502Leu | |
| ENST00000673724.1:c.1172G>T | ENSP00000501153.1:p.Arg391Leu | |
| ENST00000357460.6:c.1505G>T | ENSP00000350049.4:p.Arg502Leu | |
| ENST00000561013.2:c.1511G>T | ENSP00000453979.1:p.Arg504Leu | |
| NM_020834.2:c.1505G>T | NP_065885.2:p.Arg502Leu | |
| NM_020834.3:c.1505G>T MANE Select | NP_065885.2:p.Arg502Leu |