Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86954842A>G , CM000673.2:g.86954842A>G | GRCh38 |
| NC_000011.9:g.86665884A>G , CM000673.1:g.86665884A>G | GRCh37 |
| NC_000011.8:g.86343532A>G | NCBI36 |
| NG_011752.1:g.5550T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531380.2:c.244T>C MANE Select | ENSP00000434034.1:p.Phe82Leu | |
| ENST00000531380.1:c.244T>C | ENSP00000434034.1:p.Phe82Leu | |
| NM_012193.3:c.244T>C | NP_036325.2:p.Phe82Leu | |
| NM_012193.4:c.244T>C MANE Select | NP_036325.2:p.Phe82Leu |