Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18315490T>G , CM000679.2:g.18315490T>G | GRCh38 |
| NC_000017.10:g.18218804T>G , CM000679.1:g.18218804T>G | GRCh37 |
| NC_000017.9:g.18159529T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144775.3:c.-300T>G MANE Select | NP_658988.2:n.-300T>G |
| ENST00000406438.5:c.-300T>G MANE Select | ENSP00000385025.3:n.-300T>G |
| NM_144775.2:c.-300T>G | NP_658988.2:n.-300T>G |
| ENST00000406438.4:c.-300T>G | ENSP00000385025.3:n.-300T>G |