Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34173239C>T , CM000673.2:g.34173239C>T | GRCh38 |
| NC_000011.9:g.34194786C>T , CM000673.1:g.34194786C>T | GRCh37 |
| NC_000011.8:g.34151362C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145804.3:c.1313G>A MANE Select | NP_665803.2:p.Arg438His |
| ENST00000435224.3:c.1313G>A MANE Select | ENSP00000410157.2:p.Arg438His |
| NM_145804.2:c.1313G>A | NP_665803.2:p.Arg438His |
| ENST00000435224.2:c.1313G>A | ENSP00000410157.2:p.Arg438His |
| ENST00000530814.1:n.501G>A |