Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86954840G>T , CM000673.2:g.86954840G>T | GRCh38 |
| NC_000011.9:g.86665882G>T , CM000673.1:g.86665882G>T | GRCh37 |
| NC_000011.8:g.86343530G>T | NCBI36 |
| NG_011752.1:g.5552C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531380.2:c.246C>A MANE Select | ENSP00000434034.1:p.Phe82Leu | |
| ENST00000531380.1:c.246C>A | ENSP00000434034.1:p.Phe82Leu | |
| NM_012193.3:c.246C>A | NP_036325.2:p.Phe82Leu | |
| NM_012193.4:c.246C>A MANE Select | NP_036325.2:p.Phe82Leu |