Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68829647C>G , CM000685.2:g.68829647C>G | GRCh38 |
| NC_000023.10:g.68049490C>G , CM000685.1:g.68049490C>G | GRCh37 |
| NC_000023.9:g.67966215C>G | NCBI36 |
| NG_008887.1:g.5651C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.-130C>G MANE Select | ENSP00000204961.4:n.-130C>G | |
| ENST00000204961.4:c.-130C>G | ENSP00000204961.4:n.-130C>G | |
| NM_004429.4:c.-130C>G | NP_004420.1:n.-130C>G | |
| NM_004429.5:c.-130C>G MANE Select | NP_004420.1:n.-130C>G |