Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155463232G= , CM000669.2:g.155463232G= | GRCh38 |
| NC_000007.13:g.155255927G= , CM000669.1:g.155255927G= | GRCh37 |
| NC_000007.12:g.154948688G= | NCBI36 |
| NG_007124.1:g.11513G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297375.4:c.*545G= MANE Select | ENSP00000297375.4:n.*545G= | |
| NM_001427.3:c.*545G= | NP_001418.2:n.*545G= | |
| NM_001427.4:c.*545G= MANE Select | NP_001418.2:n.*545G= |