Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72577920G>A , CM000671.2:g.72577920G>A | GRCh38 |
| NC_000009.11:g.75192836G>A , CM000671.1:g.75192836G>A | GRCh37 |
| NC_000009.10:g.74382656G>A | NCBI36 |
| NG_008213.1:g.61120G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.-409G>A MANE Select | ENSP00000297784.6:n.-409G>A | |
| ENST00000643676.1:n.307-38448G>A | ||
| ENST00000645208.2:c.-409G>A | ENSP00000494684.1:n.-409G>A | |
| ENST00000646244.1:n.1G>A | ||
| ENST00000650689.1:n.84G>A | ||
| ENST00000651183.1:c.-510G>A | ENSP00000498723.1:n.-510G>A | |
| ENST00000651743.1:n.134G>A | ||
| ENST00000297784.9:c.-409G>A | ENSP00000297784.5:n.-409G>A | |
| ENST00000497073.1:n.133G>A | ||
| NM_138691.2:c.-409G>A | NP_619636.2:n.-409G>A | |
| NM_138691.3:c.-409G>A MANE Select | NP_619636.2:n.-409G>A |