Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169542018C>T , CM000663.2:g.169542018C>T | GRCh38 |
| NC_000001.10:g.169511256C>T , CM000663.1:g.169511256C>T | GRCh37 |
| NC_000001.9:g.167777880C>T | NCBI36 |
| NG_011806.1:g.49514G>A , LRG_553:g.49514G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.3072G>A MANE Select | NP_000121.2:p.Gln1024= |
| ENST00000367797.9:c.3072G>A MANE Select | ENSP00000356771.3:p.Gln1024= |
| NM_000130.4:c.3072G>A , LRG_553t1:c.3072G>A | NP_000121.2:p.Gln1024= |
| ENST00000367796.3:c.3087G>A | ENSP00000356770.3:p.Gln1029= |
| ENST00000367797.7:c.3072G>A | ENSP00000356771.3:p.Gln1024= |
| XM_017000660.2:c.2661G>A | XP_016856149.1:p.Gln887= |