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