dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35534023G>A , CM000681.2:g.35534023G>A | GRCh38 |
| NC_000019.9:g.36024925G>A , CM000681.1:g.36024925G>A | GRCh37 |
| NC_000019.8:g.40716765G>A | NCBI36 |
| NG_046898.1:g.5612G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222286.9:c.67+429G>A MANE Select | ENSP00000222286.3:n.67+429G>A | |
| ENST00000222286.8:c.67+429G>A | ENSP00000222286.3:n.67+429G>A | |
| ENST00000586334.1:c.67+429G>A | ENSP00000466432.1:n.67+429G>A | |
| NM_014364.4:c.67+429G>A | NP_055179.1:n.67+429G>A | |
| NM_014364.5:c.67+429G>A MANE Select | NP_055179.1:n.67+429G>A |