Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40472440T>G , CM000677.2:g.40472440T>G | GRCh38 |
| NC_000015.9:g.40764639T>G , CM000677.1:g.40764639T>G | GRCh37 |
| NC_000015.8:g.38551931T>G | NCBI36 |
| NG_017074.1:g.6480T>G , LRG_600:g.6480T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306243.7:c.*96T>G MANE Select | ENSP00000307297.6:n.*96T>G | |
| ENST00000306243.6:c.*96T>G | ENSP00000307297.5:n.*96T>G | |
| ENST00000559991.1:c.*96T>G | ENSP00000453882.1:n.*96T>G | |
| NM_130468.3:c.*96T>G , LRG_600t1:c.*96T>G | NP_569735.1:n.*96T>G | |
| NM_130468.4:c.*96T>G MANE Select | NP_569735.1:n.*96T>G |