Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54448862C>T , CM000685.2:g.54448862C>T | GRCh38 |
| NC_000023.10:g.54475295C>T , CM000685.1:g.54475295C>T | GRCh37 |
| NC_000023.9:g.54492020C>T | NCBI36 |
| NG_008054.1:g.52305G>A | |
| NG_051993.1:g.13488C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004463.3:c.2380G>A MANE Select | NP_004454.2:p.Gly794Arg |
| ENST00000375135.4:c.2380G>A MANE Select | ENSP00000364277.3:p.Gly794Arg |
| NM_004463.2:c.2380G>A | NP_004454.2:p.Gly794Arg |
| ENST00000375135.3:c.2380G>A | ENSP00000364277.3:p.Gly794Arg |