Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.20139242C= , CM000669.2:g.20139242C= | GRCh38 |
| NC_000007.13:g.20178865C= , CM000669.1:g.20178865C= | GRCh37 |
| NC_000007.12:g.20145390C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_182762.4:c.*1704G= MANE Select | NP_877439.3:n.*1704G= |
| ENST00000400331.10:c.*1704G= MANE Select | ENSP00000383185.3:n.*1704G= |
| NM_182762.3:c.*1704G= | NP_877439.3:n.*1704G= |
| NR_110114.1:n.110+1075G= | |
| ENST00000400331.9:c.*1704G= | ENSP00000383185.3:n.*1704G= |