Linked Data
ClinVar Variation Id:
1114028
ClinVar RCV Id:
RCV001441577
dbSNP Id:
rs2085117598
gnomAD v3:
17-19671803-A-G
gnomAD v4:
17-19671803-A-G
MyVariant Identifiers:
chr17:g.19575116A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19671803A>G , CM000679.2:g.19671803A>G | GRCh38 |
| NC_000017.10:g.19575116A>G , CM000679.1:g.19575116A>G | GRCh37 |
| NC_000017.9:g.19515708A>G | NCBI36 |
| NG_007095.2:g.28053A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176643.11:c.1290A>G MANE Select | ENSP00000176643.6:p.Leu430= | |
| ENST00000395575.7:c.963A>G | ENSP00000378942.3:p.Leu321= | |
| ENST00000472059.6:c.*848A>G | ENSP00000458397.1:n.*848A>G | |
| ENST00000571163.2:c.227-3693A>G | ENSP00000459977.2:n.227-3693A>G | |
| ENST00000573947.2:c.90A>G | ENSP00000462933.2:p.Leu30= | |
| ENST00000574078.3:n.619A>G | ||
| ENST00000581518.6:c.1290A>G | ENSP00000461916.2:p.Leu430= | |
| ENST00000582991.6:c.*8A>G | ENSP00000464153.1:n.*8A>G | |
| ENST00000671878.1:c.1290A>G | ENSP00000500516.1:p.Leu430= | |
| ENST00000672059.1:n.1641A>G | ||
| ENST00000672357.1:c.1290A>G | ENSP00000500092.1:p.Leu430= | |
| ENST00000672465.1:c.1290A>G | ENSP00000500517.1:p.Leu430= | |
| ENST00000672487.1:c.*470A>G | ENSP00000500740.1:n.*470A>G | |
| ENST00000672564.1:n.2959A>G | ||
| ENST00000672567.1:c.1098+6756A>G | ||
| ENST00000672591.1:c.350A>G | ||
| ENST00000672608.1:n.2279A>G | ||
| ENST00000672709.1:c.1144A>G | ||
| ENST00000673064.1:n.1790A>G | ||
| ENST00000673136.1:c.1208-3693A>G | ENSP00000500380.1:n.1208-3693A>G | |
| ENST00000673472.1:n.1626A>G | ||
| ENST00000673516.1:n.1750A>G | ||
| ENST00000176643.10:c.1290A>G | ENSP00000176643.6:p.Leu430= | |
| ENST00000339618.8:c.1290A>G | ENSP00000345774.4:p.Leu430= | |
| ENST00000395575.6:c.1290A>G | ENSP00000378942.2:p.Leu430= | |
| ENST00000472059.5:c.*848A>G | ENSP00000458397.1:n.*848A>G | |
| ENST00000476965.5:n.1040A>G | ||
| ENST00000571163.1:c.227-3755A>G | ENSP00000459977.1:n.227-3755A>G | |
| ENST00000573565.1:c.5A>G | ||
| ENST00000573947.1:c.197A>G | ENSP00000462933.1:n.197A>G | |
| ENST00000575384.2:c.36A>G | ENSP00000461235.2:p.Leu12= | |
| ENST00000579855.5:c.1290A>G | ENSP00000463637.1:p.Leu430= | |
| ENST00000581518.5:c.1290A>G | ENSP00000461916.1:p.Leu430= | |
| ENST00000582991.5:c.*8A>G | ENSP00000464153.1:n.*8A>G | |
| ENST00000630662.2:c.227-3755A>G | ENSP00000487353.1:n.227-3755A>G | |
| ENST00000631291.2:c.*8A>G | ENSP00000486085.1:n.*8A>G | |
| NM_000382.2:c.1290A>G | NP_000373.1:p.Leu430= | |
| NM_001031806.1:c.1290A>G | NP_001026976.1:p.Leu430= | |
| XM_011523732.1:c.1290A>G | XP_011522034.1:p.Leu430= | |
| XM_011523733.1:c.1290A>G | XP_011522035.1:p.Leu430= | |
| XM_011523733.2:c.1290A>G | XP_011522035.1:p.Leu430= | |
| XM_017024355.1:c.1208-3755A>G | XP_016879844.1:n.1208-3755A>G | |
| XM_017024356.2:c.1290A>G | XP_016879845.1:p.Leu430= | |
| XM_017024357.1:c.1290A>G | XP_016879846.1:p.Leu430= | |
| XM_017024358.2:c.1208-3755A>G | XP_016879847.1:n.1208-3755A>G | |
| XM_024450651.1:c.711A>G | XP_024306419.1:p.Leu237= | |
| XM_024450652.1:c.711A>G | XP_024306420.1:p.Leu237= | |
| NM_000382.3:c.1290A>G MANE Select | NP_000373.1:p.Leu430= | |
| NM_001031806.2:c.1290A>G | NP_001026976.1:p.Leu430= | |
| NM_001369136.1:c.1290A>G | NP_001356065.1:p.Leu430= | |
| NM_001369137.1:c.1290A>G | NP_001356066.1:p.Leu430= | |
| NM_001369138.1:c.1290A>G | NP_001356067.1:p.Leu430= | |
| NM_001369139.1:c.1290A>G | NP_001356068.1:p.Leu430= | |
| NM_001369146.1:c.1208-3755A>G | NP_001356075.1:n.1208-3755A>G | |
| NM_001369148.1:c.711A>G | NP_001356077.1:p.Leu237= | |
| NM_001369137.2:c.1290A>G | NP_001356066.1:p.Leu430= | |
| NM_001369138.2:c.1290A>G | NP_001356067.1:p.Leu430= | |
| NM_001369146.2:c.1208-3755A>G | NP_001356075.1:n.1208-3755A>G | |
| NM_001369148.2:c.711A>G | NP_001356077.1:p.Leu237= |