Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2435152C>T , CM000681.2:g.2435152C>T | GRCh38 |
| NC_000019.9:g.2435150C>T , CM000681.1:g.2435150C>T | GRCh37 |
| NC_000019.8:g.2386150C>T | NCBI36 |
| NG_008355.1:g.26809G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032737.4:c.704G>A MANE Select | NP_116126.3:p.Arg235Gln |
| ENST00000325327.4:c.704G>A MANE Select | ENSP00000327054.3:p.Arg235Gln |
| NM_032737.3:c.704G>A | NP_116126.3:p.Arg235Gln |
| ENST00000325327.3:c.704G>A | ENSP00000327054.3:p.Arg235Gln |
| ENST00000527409.1:n.340G>A | |
| ENST00000534495.1:n.342G>A | |
| XM_011528378.1:c.704G>A | XP_011526680.1:p.Arg235Gln |
| XM_011528379.1:c.356G>A | XP_011526681.1:p.Arg119Gln |