Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54467902G>A , CM000685.2:g.54467902G>A | GRCh38 |
| NC_000023.10:g.54494335G>A , CM000685.1:g.54494335G>A | GRCh37 |
| NC_000023.9:g.54511060G>A | NCBI36 |
| NG_008054.1:g.33265C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.1222C>T MANE Select | ENSP00000364277.3:p.Arg408Trp | |
| ENST00000375135.3:c.1222C>T | ENSP00000364277.3:p.Arg408Trp | |
| NM_004463.2:c.1222C>T | NP_004454.2:p.Arg408Trp | |
| NM_004463.3:c.1222C>T MANE Select | NP_004454.2:p.Arg408Trp |