Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155461322A>C , CM000669.2:g.155461322A>C | GRCh38 |
| NC_000007.13:g.155254017A>C , CM000669.1:g.155254017A>C | GRCh37 |
| NC_000007.12:g.154946778A>C | NCBI36 |
| NG_007124.1:g.9603A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297375.4:c.686-1049A>C MANE Select | ENSP00000297375.4:n.686-1049A>C | |
| NM_001427.3:c.686-1049A>C | NP_001418.2:n.686-1049A>C | |
| NM_001427.4:c.686-1049A>C MANE Select | NP_001418.2:n.686-1049A>C |