Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58278036G= , CM000679.2:g.58278036G= | GRCh38 |
| NC_000017.10:g.56355397G= , CM000679.1:g.56355397G= | GRCh37 |
| NC_000017.9:g.53710396G= | NCBI36 |
| NG_009629.1:g.7900C= , LRG_84:g.7900C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000250.2:c.995C= MANE Select | NP_000241.1:p.Ala332= |
| ENST00000225275.4:c.995C= MANE Select | ENSP00000225275.3:p.Ala332= |
| NM_000250.1:c.995C= , LRG_84t1:c.995C= | NP_000241.1:p.Ala332= |
| ENST00000225275.3:c.995C= | ENSP00000225275.3:p.Ala332= |
| ENST00000578493.1:n.84C= | |
| ENST00000578493.2:n.270C= | |
| ENST00000699291.1:c.281C= | ENSP00000514272.1:p.Ala94= |
| XM_011524821.1:c.1181C= | XP_011523123.1:p.Ala394= |
| XM_011524822.1:c.710C= | XP_011523124.1:p.Ala237= |
| XM_011524823.1:c.1181C= | XP_011523125.1:p.Ala394= |