Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21768669G>T , CM000680.2:g.21768669G>T | GRCh38 |
| NC_000018.9:g.19348630G>T , CM000680.1:g.19348630G>T | GRCh37 |
| NC_000018.8:g.17602628G>T | NCBI36 |
| NG_033272.2:g.68713G>T , LRG_759:g.68713G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261537.7:c.448G>T MANE Select | ENSP00000261537.6:p.Gly150Ter | |
| ENST00000261537.6:c.448G>T | ENSP00000261537.6:p.Gly150Ter | |
| ENST00000578646.5:n.386G>T | ||
| NM_020774.3:c.448G>T , LRG_759t1:c.448G>T | NP_065825.1:p.Gly150Ter | |
| XR_935234.1:n.1239G>T | ||
| XR_935235.1:n.1239G>T | ||
| XM_017025874.1:c.448G>T | XP_016881363.1:p.Gly150Ter | |
| XM_017025875.1:c.448G>T | XP_016881364.1:p.Gly150Ter | |
| NM_020774.4:c.448G>T MANE Select | NP_065825.1:p.Gly150Ter |