Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85596881C>G , CM000664.2:g.85596881C>G | GRCh38 |
| NC_000002.11:g.85824004C>G , CM000664.1:g.85824004C>G | GRCh37 |
| NC_000002.10:g.85677515C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016494.4:c.277C>G MANE Select | NP_057578.1:p.Pro93Ala |
| ENST00000306368.9:c.277C>G MANE Select | ENSP00000306906.4:p.Pro93Ala |
| NM_016494.3:c.277C>G | NP_057578.1:p.Pro93Ala |
| ENST00000306368.8:c.277C>G | ENSP00000306906.4:p.Pro93Ala |
| ENST00000441634.5:c.277C>G | ENSP00000412025.1:p.Pro93Ala |
| ENST00000443647.5:c.*5C>G | ENSP00000391326.1:n.*5C>G |
| ENST00000456023.1:c.165-72C>G | |
| ENST00000461845.1:n.488C>G | |
| XM_005264359.3:c.218-72C>G | XP_005264416.1:n.218-72C>G |
| XM_005264359.4:c.218-72C>G | XP_005264416.1:n.218-72C>G |