Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169515314T>G , CM000663.2:g.169515314T>G | GRCh38 |
| NC_000001.10:g.169484552T>G , CM000663.1:g.169484552T>G | GRCh37 |
| NC_000001.9:g.167751176T>G | NCBI36 |
| NG_011806.1:g.76218A>C , LRG_553:g.76218A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.6528+130A>C MANE Select | NP_000121.2:n.6528+130A>C |
| ENST00000367797.9:c.6528+130A>C MANE Select | ENSP00000356771.3:n.6528+130A>C |
| NM_000130.4:c.6528+130A>C , LRG_553t1:c.6528+130A>C | NP_000121.2:n.6528+130A>C |
| ENST00000367796.3:c.6543+130A>C | ENSP00000356770.3:n.6543+130A>C |
| ENST00000367797.7:c.6528+130A>C | ENSP00000356771.3:n.6528+130A>C |
| ENST00000495481.1:n.302+130A>C | |
| XM_017000660.2:c.6117+130A>C | XP_016856149.1:n.6117+130A>C |