Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169540501T>G , CM000663.2:g.169540501T>G | GRCh38 |
| NC_000001.10:g.169509739T>G , CM000663.1:g.169509739T>G | GRCh37 |
| NC_000001.9:g.167776363T>G | NCBI36 |
| NG_011806.1:g.51031A>C , LRG_553:g.51031A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.4589A>C MANE Select | NP_000121.2:p.Glu1530Ala |
| ENST00000367797.9:c.4589A>C MANE Select | ENSP00000356771.3:p.Glu1530Ala |
| NM_000130.4:c.4589A>C , LRG_553t1:c.4589A>C | NP_000121.2:p.Glu1530Ala |
| ENST00000367796.3:c.4604A>C | ENSP00000356770.3:p.Glu1535Ala |
| ENST00000367797.7:c.4589A>C | ENSP00000356771.3:p.Glu1530Ala |
| XM_017000660.2:c.4178A>C | XP_016856149.1:p.Glu1393Ala |