Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72577891T>C , CM000671.2:g.72577891T>C | GRCh38 |
| NC_000009.11:g.75192807T>C , CM000671.1:g.75192807T>C | GRCh37 |
| NC_000009.10:g.74382627T>C | NCBI36 |
| NG_008213.1:g.61091T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.-427-11T>C MANE Select | ENSP00000297784.6:n.-427-11T>C | |
| ENST00000643676.1:n.307-38477T>C | ||
| ENST00000645208.2:c.-438T>C | ENSP00000494684.1:n.-438T>C | |
| ENST00000650689.1:n.66-11T>C | ||
| ENST00000651183.1:c.-528-11T>C | ENSP00000498723.1:n.-528-11T>C | |
| ENST00000651743.1:n.116-11T>C | ||
| ENST00000297784.9:c.-427-11T>C | ENSP00000297784.5:n.-427-11T>C | |
| ENST00000497073.1:n.104T>C | ||
| NM_138691.2:c.-427-11T>C | NP_619636.2:n.-427-11T>C | |
| NM_138691.3:c.-427-11T>C MANE Select | NP_619636.2:n.-427-11T>C |