Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.6877909C>T , CM000670.2:g.6877909C>T | GRCh38 |
| NC_000008.10:g.6735431C>T , CM000670.1:g.6735431C>T | GRCh37 |
| NC_000008.9:g.6722841C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005218.4:c.-52G>A MANE Select | NP_005209.1:n.-52G>A |
| ENST00000297439.4:c.-52G>A MANE Select | ENSP00000297439.3:n.-52G>A |
| NM_005218.3:c.-52G>A | NP_005209.1:n.-52G>A |
| ENST00000297439.3:c.-52G>A | ENSP00000297439.3:n.-52G>A |