Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169511985C>A , CM000663.2:g.169511985C>A | GRCh38 |
| NC_000001.10:g.169481223C>A , CM000663.1:g.169481223C>A | GRCh37 |
| NC_000001.9:g.167747847C>A | NCBI36 |
| NG_011806.1:g.79547G>T , LRG_553:g.79547G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.*2328G>T MANE Select | NP_000121.2:n.*2328G>T |
| ENST00000367797.9:c.*2328G>T MANE Select | ENSP00000356771.3:n.*2328G>T |
| NM_000130.4:c.*2328G>T , LRG_553t1:c.*2328G>T | NP_000121.2:n.*2328G>T |
| XM_017000660.2:c.*2328G>T | XP_016856149.1:n.*2328G>T |