Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69816424C>G , CM000673.2:g.69816424C>G | GRCh38 |
| NC_000011.9:g.69631192C>G , CM000673.1:g.69631192C>G | GRCh37 |
| NC_000011.8:g.69340129C>G | NCBI36 |
| NG_009016.1:g.8001G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005247.4:c.221-1G>C MANE Select | NP_005238.1:n.221-1G>C |
| ENST00000334134.4:c.221-1G>C MANE Select | ENSP00000334122.2:n.221-1G>C |
| NM_005247.2:c.221-1G>C | NP_005238.1:n.221-1G>C |
| NM_005247.3:c.221-1G>C | NP_005238.1:n.221-1G>C |
| ENST00000334134.2:c.221-1G>C | ENSP00000334122.2:n.221-1G>C |
| ENST00000646078.1:n.68-1G>C |