Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169513913G>C , CM000663.2:g.169513913G>C | GRCh38 |
| NC_000001.10:g.169483151G>C , CM000663.1:g.169483151G>C | GRCh37 |
| NC_000001.9:g.167749775G>C | NCBI36 |
| NG_011806.1:g.77619C>G , LRG_553:g.77619C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.*400C>G MANE Select | ENSP00000356771.3:n.*400C>G | |
| NM_000130.4:c.*400C>G , LRG_553t1:c.*400C>G | NP_000121.2:n.*400C>G | |
| XM_017000660.2:c.*400C>G | XP_016856149.1:n.*400C>G | |
| NM_000130.5:c.*400C>G MANE Select | NP_000121.2:n.*400C>G |