Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2435152C= , CM000681.2:g.2435152C= | GRCh38 |
| NC_000019.9:g.2435150C= , CM000681.1:g.2435150C= | GRCh37 |
| NC_000019.8:g.2386150C= | NCBI36 |
| NG_008355.1:g.26809G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032737.4:c.704G= MANE Select | NP_116126.3:p.Arg235= |
| ENST00000325327.4:c.704G= MANE Select | ENSP00000327054.3:p.Arg235= |
| NM_032737.3:c.704G= | NP_116126.3:p.Arg235= |
| ENST00000325327.3:c.704G= | ENSP00000327054.3:p.Arg235= |
| ENST00000527409.1:n.340G= | |
| ENST00000534495.1:n.342G= | |
| XM_011528378.1:c.704G= | XP_011526680.1:p.Arg235= |
| XM_011528379.1:c.356G= | XP_011526681.1:p.Arg119= |