Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862681T>C , CM000666.2:g.4862681T>C | GRCh38 |
| NC_000004.11:g.4864408T>C , CM000666.1:g.4864408T>C | GRCh37 |
| NC_000004.10:g.4915309T>C | NCBI36 |
| NG_008121.1:g.8017T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.470-20T>C MANE Select | ENSP00000372170.4:n.470-20T>C | |
| ENST00000382723.4:c.470-20T>C | ENSP00000372170.4:n.470-20T>C | |
| ENST00000468421.1:n.182-20T>C | ||
| NM_002448.3:c.470-20T>C MANE Select | NP_002439.2:n.470-20T>C |