Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169541280G>C , CM000663.2:g.169541280G>C | GRCh38 |
| NC_000001.10:g.169510518G>C , CM000663.1:g.169510518G>C | GRCh37 |
| NC_000001.9:g.167777142G>C | NCBI36 |
| NG_011806.1:g.50252C>G , LRG_553:g.50252C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.3810C>G MANE Select | NP_000121.2:p.Ala1270= |
| ENST00000367797.9:c.3810C>G MANE Select | ENSP00000356771.3:p.Ala1270= |
| NM_000130.4:c.3810C>G , LRG_553t1:c.3810C>G | NP_000121.2:p.Ala1270= |
| ENST00000367796.3:c.3825C>G | ENSP00000356770.3:p.Ala1275= |
| ENST00000367797.7:c.3810C>G | ENSP00000356771.3:p.Ala1270= |
| XM_017000660.2:c.3399C>G | XP_016856149.1:p.Ala1133= |