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