Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273534C= , CM000679.2:g.58273534C= | GRCh38 |
| NC_000017.10:g.56350895C= , CM000679.1:g.56350895C= | GRCh37 |
| NC_000017.9:g.53705894C= | NCBI36 |
| NG_009629.1:g.12402G= , LRG_84:g.12402G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000250.2:c.1501G= MANE Select | NP_000241.1:p.Gly501= |
| ENST00000225275.4:c.1501G= MANE Select | ENSP00000225275.3:p.Gly501= |
| NM_000250.1:c.1501G= , LRG_84t1:c.1501G= | NP_000241.1:p.Gly501= |
| ENST00000225275.3:c.1501G= | ENSP00000225275.3:p.Gly501= |
| ENST00000578493.2:n.834G= | |
| ENST00000699291.1:c.626G= | ENSP00000514272.1:n.626G= |
| ENST00000699292.1:n.541G= | |
| XM_011524821.1:c.1687G= | XP_011523123.1:p.Gly563= |
| XM_011524822.1:c.1216G= | XP_011523124.1:p.Gly406= |
| XM_011524823.1:c.*50G= | XP_011523125.1:n.*50G= |