Linked Data
ClinVar Variation Id:
384796
dbSNP Id:
rs145860233
ExAC:
19:10246854 G / A
gnomAD v2:
19-10246854-G-A
gnomAD v3:
19-10136178-G-A
gnomAD v4:
19-10136178-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10136178G>A , CM000681.2:g.10136178G>A | GRCh38 |
| NC_000019.9:g.10246854G>A , CM000681.1:g.10246854G>A | GRCh37 |
| NC_000019.8:g.10107854G>A | NCBI36 |
| NG_028016.3:g.100109C>T , LRG_362:g.100109C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.4599C>T MANE Select | ENSP00000352516.3:p.Leu1533= | |
| ENST00000586667.2:n.2634C>T | ||
| ENST00000589351.6:n.3785C>T | ||
| ENST00000676604.1:n.4211C>T | ||
| ENST00000676610.1:c.4551C>T | ENSP00000504236.1:p.Leu1517= | |
| ENST00000676820.1:n.5445C>T | ||
| ENST00000676868.1:n.5235C>T | ||
| ENST00000677013.1:c.*4241C>T | ENSP00000503135.1:n.*4241C>T | |
| ENST00000677038.1:n.1147C>T | ||
| ENST00000677250.1:c.*3671C>T | ENSP00000502894.1:n.*3671C>T | |
| ENST00000677616.1:c.*821C>T | ENSP00000503055.1:n.*821C>T | |
| ENST00000677634.1:c.*1154C>T | ENSP00000504246.1:n.*1154C>T | |
| ENST00000677685.1:c.*3776C>T | ENSP00000503407.1:n.*3776C>T | |
| ENST00000677783.1:n.5859C>T | ||
| ENST00000677946.1:c.4551C>T | ENSP00000504202.1:p.Leu1517= | |
| ENST00000678024.1:n.5532C>T | ||
| ENST00000678107.1:n.1594C>T | ||
| ENST00000678239.1:n.1452C>T | ||
| ENST00000678647.1:n.2693C>T | ||
| ENST00000678694.1:n.3872C>T | ||
| ENST00000678804.1:c.4560C>T | ENSP00000503853.1:p.Leu1520= | |
| ENST00000678851.1:n.593C>T | ||
| ENST00000678957.1:n.2263C>T | ||
| ENST00000679100.1:n.2738C>T | ||
| ENST00000679103.1:c.4551C>T | ENSP00000503151.1:p.Leu1517= | |
| ENST00000679313.1:c.4560C>T | ENSP00000504512.1:p.Leu1520= | |
| ENST00000340748.8:c.4551C>T | ENSP00000345739.3:p.Leu1517= | |
| ENST00000359526.8:c.4599C>T | ENSP00000352516.3:p.Leu1533= | |
| ENST00000540357.5:c.3543C>T | ENSP00000440457.2:p.Leu1181= | |
| ENST00000586588.5:n.2472C>T | ||
| ENST00000588913.5:c.878C>T | ||
| ENST00000592705.5:c.*4289C>T | ENSP00000466657.1:n.*4289C>T | |
| NM_001130823.1:c.4599C>T , LRG_362t1:c.4599C>T | NP_001124295.1:p.Leu1533= | |
| NM_001379.2:c.4551C>T | NP_001370.1:p.Leu1517= | |
| XM_011527772.1:c.4608C>T | XP_011526074.1:p.Leu1536= | |
| XM_011527773.1:c.4560C>T | XP_011526075.1:p.Leu1520= | |
| XM_011527774.1:c.4197C>T | XP_011526076.1:p.Leu1399= | |
| NM_001130823.2:c.4599C>T | NP_001124295.1:p.Leu1533= | |
| NM_001318730.1:c.4560C>T | NP_001305659.1:p.Leu1520= | |
| NM_001318731.1:c.4236C>T | NP_001305660.1:p.Leu1412= | |
| NM_001379.3:c.4551C>T | NP_001370.1:p.Leu1517= | |
| NM_001130823.3:c.4599C>T MANE Select | NP_001124295.1:p.Leu1533= | |
| NM_001318730.2:c.4560C>T | NP_001305659.1:p.Leu1520= | |
| NM_001318731.2:c.4236C>T | NP_001305660.1:p.Leu1412= | |
| NM_001379.4:c.4551C>T | NP_001370.1:p.Leu1517= |