Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50910754G>C , CM000685.2:g.50910754G>C | GRCh38 |
| NC_000023.10:g.50653754G>C , CM000685.1:g.50653754G>C | GRCh37 |
| NC_000023.9:g.50670494G>C | NCBI36 |
| NG_012894.1:g.4971G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.-30G>C MANE Select | ENSP00000252677.3:n.-30G>C | |
| NM_005448.2:c.-30G>C MANE Select | NP_005439.2:n.-30G>C |