Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72577907A>G , CM000671.2:g.72577907A>G | GRCh38 |
| NC_000009.11:g.75192823A>G , CM000671.1:g.75192823A>G | GRCh37 |
| NC_000009.10:g.74382643A>G | NCBI36 |
| NG_008213.1:g.61107A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.-422A>G MANE Select | ENSP00000297784.6:n.-422A>G | |
| ENST00000643676.1:n.307-38461A>G | ||
| ENST00000645208.2:c.-422A>G | ENSP00000494684.1:n.-422A>G | |
| ENST00000650689.1:n.71A>G | ||
| ENST00000651183.1:c.-523A>G | ENSP00000498723.1:n.-523A>G | |
| ENST00000651743.1:n.121A>G | ||
| ENST00000297784.9:c.-422A>G | ENSP00000297784.5:n.-422A>G | |
| ENST00000497073.1:n.120A>G | ||
| NM_138691.2:c.-422A>G | NP_619636.2:n.-422A>G | |
| NM_138691.3:c.-422A>G MANE Select | NP_619636.2:n.-422A>G |