Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.98608474G>C , CM000664.2:g.98608474G>C | GRCh38 |
| NC_000002.11:g.99224937G>C , CM000664.1:g.99224937G>C | GRCh37 |
| NC_000002.10:g.98591369G>C | NCBI36 |
| NG_031918.1:g.5045C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001008215.3:c.-69C>G MANE Select | NP_001008216.1:n.-69C>G |
| ENST00000328709.8:c.-69C>G MANE Select | ENSP00000330730.3:n.-69C>G |
| NM_001008215.2:c.-69C>G | NP_001008216.1:n.-69C>G |
| ENST00000328709.7:c.-69C>G | ENSP00000330730.3:n.-69C>G |
| ENST00000409997.1:c.-69C>G | ENSP00000386934.1:n.-69C>G |
| ENST00000483527.5:n.34C>G |