Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4863175C>A , CM000666.2:g.4863175C>A | GRCh38 |
| NC_000004.11:g.4864902C>A , CM000666.1:g.4864902C>A | GRCh37 |
| NC_000004.10:g.4915803C>A | NCBI36 |
| NG_008121.1:g.8511C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.*32C>A MANE Select | ENSP00000372170.4:n.*32C>A | |
| ENST00000382723.4:c.*32C>A | ENSP00000372170.4:n.*32C>A | |
| NM_002448.3:c.*32C>A MANE Select | NP_002439.2:n.*32C>A |