Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155461257C>A , CM000669.2:g.155461257C>A | GRCh38 |
| NC_000007.13:g.155253952C>A , CM000669.1:g.155253952C>A | GRCh37 |
| NC_000007.12:g.154946713C>A | NCBI36 |
| NG_007124.1:g.9538C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297375.4:c.686-1114C>A MANE Select | ENSP00000297375.4:n.686-1114C>A | |
| NM_001427.3:c.686-1114C>A | NP_001418.2:n.686-1114C>A | |
| NM_001427.4:c.686-1114C>A MANE Select | NP_001418.2:n.686-1114C>A |