Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594834G>T , CM000679.2:g.56594834G>T | GRCh38 |
| NC_000017.10:g.54672195G>T , CM000679.1:g.54672195G>T | GRCh37 |
| NC_000017.9:g.52027194G>T | NCBI36 |
| NG_011958.1:g.6136G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.611G>T MANE Select | ENSP00000328181.4:p.Arg204Leu | |
| ENST00000332822.4:c.611G>T | ENSP00000328181.4:p.Arg204Leu | |
| NM_005450.4:c.611G>T | NP_005441.1:p.Arg204Leu | |
| NM_005450.6:c.611G>T MANE Select | NP_005441.1:p.Arg204Leu |