Linked Data
dbSNP Id:
rs978675481
gnomAD v2:
1-16380255-G-T
gnomAD v3:
1-16053760-G-T
gnomAD v4:
1-16053760-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16053760G>T , CM000663.2:g.16053760G>T | GRCh38 |
| NC_000001.10:g.16380255G>T , CM000663.1:g.16380255G>T | GRCh37 |
| NC_000001.9:g.16252842G>T | NCBI36 |
| NG_013079.1:g.15009G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682338.1:c.1744G>T | ENSP00000507062.1:p.Val582Leu | |
| ENST00000682793.1:c.1744G>T | ENSP00000506910.1:p.Val582Leu | |
| ENST00000682838.1:c.*1486G>T | ENSP00000507652.1:n.*1486G>T | |
| ENST00000683578.1:c.1744G>T | ENSP00000507430.1:p.Val582Leu | |
| ENST00000683606.1:n.1350G>T | ||
| ENST00000683661.1:n.3279G>T | ||
| ENST00000684324.1:c.1744G>T | ENSP00000507937.1:p.Val582Leu | |
| ENST00000684545.1:c.1744G>T | ENSP00000506733.1:p.Val582Leu | |
| ENST00000684624.1:n.1121G>T | ||
| ENST00000684714.1:c.1707+37G>T | ENSP00000506861.1:n.1707+37G>T | |
| ENST00000684731.1:n.1083+1349G>T | ||
| ENST00000375679.9:c.1744G>T MANE Select | ENSP00000364831.5:p.Val582Leu | |
| ENST00000375667.7:c.1237G>T | ENSP00000364819.3:p.Val413Leu | |
| ENST00000375679.8:c.1744G>T | ENSP00000364831.4:p.Val582Leu | |
| ENST00000431772.1:c.211G>T | ENSP00000389344.1:p.Val71Leu | |
| ENST00000619181.4:c.1293+70G>T | ENSP00000483866.1:n.1293+70G>T | |
| NM_000085.4:c.1744G>T | NP_000076.2:p.Val582Leu | |
| NM_001165945.2:c.1237G>T | NP_001159417.2:p.Val413Leu | |
| XM_011540619.1:c.1585G>T | XP_011538921.1:p.Val529Leu | |
| XM_011540621.1:c.1093G>T | XP_011538923.1:p.Val365Leu | |
| NM_000085.5:c.1744G>T MANE Select | NP_000076.2:p.Val582Leu |