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