Linked Data
ClinVar Variation Id:
1447852
ClinVar RCV Id:
RCV002012000
dbSNP Id:
rs1316848811
gnomAD v2:
19-10246853-C-G
gnomAD v3:
19-10136177-C-G
gnomAD v4:
19-10136177-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10136177C>G , CM000681.2:g.10136177C>G | GRCh38 |
| NC_000019.9:g.10246853C>G , CM000681.1:g.10246853C>G | GRCh37 |
| NC_000019.8:g.10107853C>G | NCBI36 |
| NG_028016.3:g.100110G>C , LRG_362:g.100110G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.4600G>C MANE Select | ENSP00000352516.3:p.Glu1534Gln | |
| ENST00000586667.2:n.2635G>C | ||
| ENST00000589351.6:n.3786G>C | ||
| ENST00000676604.1:n.4212G>C | ||
| ENST00000676610.1:c.4552G>C | ENSP00000504236.1:p.Glu1518Gln | |
| ENST00000676820.1:n.5446G>C | ||
| ENST00000676868.1:n.5236G>C | ||
| ENST00000677013.1:c.*4242G>C | ENSP00000503135.1:n.*4242G>C | |
| ENST00000677038.1:n.1148G>C | ||
| ENST00000677250.1:c.*3672G>C | ENSP00000502894.1:n.*3672G>C | |
| ENST00000677616.1:c.*822G>C | ENSP00000503055.1:n.*822G>C | |
| ENST00000677634.1:c.*1155G>C | ENSP00000504246.1:n.*1155G>C | |
| ENST00000677685.1:c.*3777G>C | ENSP00000503407.1:n.*3777G>C | |
| ENST00000677783.1:n.5860G>C | ||
| ENST00000677946.1:c.4552G>C | ENSP00000504202.1:p.Glu1518Gln | |
| ENST00000678024.1:n.5533G>C | ||
| ENST00000678107.1:n.1595G>C | ||
| ENST00000678239.1:n.1453G>C | ||
| ENST00000678647.1:n.2694G>C | ||
| ENST00000678694.1:n.3873G>C | ||
| ENST00000678804.1:c.4561G>C | ENSP00000503853.1:p.Glu1521Gln | |
| ENST00000678851.1:n.594G>C | ||
| ENST00000678957.1:n.2264G>C | ||
| ENST00000679100.1:n.2739G>C | ||
| ENST00000679103.1:c.4552G>C | ENSP00000503151.1:p.Glu1518Gln | |
| ENST00000679313.1:c.4561G>C | ENSP00000504512.1:p.Glu1521Gln | |
| ENST00000340748.8:c.4552G>C | ENSP00000345739.3:p.Glu1518Gln | |
| ENST00000359526.8:c.4600G>C | ENSP00000352516.3:p.Glu1534Gln | |
| ENST00000540357.5:c.3544G>C | ENSP00000440457.2:p.Glu1182Gln | |
| ENST00000586588.5:n.2473G>C | ||
| ENST00000588913.5:c.879G>C | ||
| ENST00000592705.5:c.*4290G>C | ENSP00000466657.1:n.*4290G>C | |
| NM_001130823.1:c.4600G>C , LRG_362t1:c.4600G>C | NP_001124295.1:p.Glu1534Gln | |
| NM_001379.2:c.4552G>C | NP_001370.1:p.Glu1518Gln | |
| XM_011527772.1:c.4609G>C | XP_011526074.1:p.Glu1537Gln | |
| XM_011527773.1:c.4561G>C | XP_011526075.1:p.Glu1521Gln | |
| XM_011527774.1:c.4198G>C | XP_011526076.1:p.Glu1400Gln | |
| NM_001130823.2:c.4600G>C | NP_001124295.1:p.Glu1534Gln | |
| NM_001318730.1:c.4561G>C | NP_001305659.1:p.Glu1521Gln | |
| NM_001318731.1:c.4237G>C | NP_001305660.1:p.Glu1413Gln | |
| NM_001379.3:c.4552G>C | NP_001370.1:p.Glu1518Gln | |
| NM_001130823.3:c.4600G>C MANE Select | NP_001124295.1:p.Glu1534Gln | |
| NM_001318730.2:c.4561G>C | NP_001305659.1:p.Glu1521Gln | |
| NM_001318731.2:c.4237G>C | NP_001305660.1:p.Glu1413Gln | |
| NM_001379.4:c.4552G>C | NP_001370.1:p.Glu1518Gln |