Linked Data
ClinVar Variation Id:
492943
dbSNP Id:
rs1047420796
gnomAD v2:
1-40312930-C-T
gnomAD v3:
1-39847258-C-T
gnomAD v4:
1-39847258-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.39847258C>T , CM000663.2:g.39847258C>T | GRCh38 |
| NC_000001.10:g.40312930C>T , CM000663.1:g.40312930C>T | GRCh37 |
| NC_000001.9:g.40085517C>T | NCBI36 |
| NG_042822.1:g.41254G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316891.10:c.968G>A MANE Select | ENSP00000321810.5:p.Arg323Gln | |
| ENST00000648678.1:c.1860G>A | ENSP00000497805.1:n.1860G>A | |
| ENST00000316891.9:c.968G>A | ENSP00000321810.5:p.Arg323Gln | |
| ENST00000372818.5:c.928+290G>A | ENSP00000361905.1:n.928+290G>A | |
| ENST00000441669.6:c.722G>A | ENSP00000388333.2:p.Arg241Gln | |
| ENST00000462797.5:c.968G>A | ENSP00000473773.1:p.Arg323Gln | |
| ENST00000465417.5:n.152G>A | ||
| ENST00000467774.1:n.250G>A | ||
| ENST00000489945.5:c.*386G>A | ENSP00000473745.1:n.*386G>A | |
| ENST00000491865.5:n.203G>A | ||
| ENST00000492612.6:c.812G>A | ||
| ENST00000495175.6:c.*390G>A | ENSP00000474264.1:n.*390G>A | |
| ENST00000537440.5:c.56G>A | ENSP00000437700.1:p.Arg19Gln | |
| ENST00000541099.5:c.-140-2618G>A | ENSP00000437896.1:n.-140-2618G>A | |
| NM_001312691.1:c.928+290G>A | NP_001299620.1:n.928+290G>A | |
| NM_001312692.1:c.722G>A | NP_001299621.1:p.Arg241Gln | |
| NM_017646.4:c.968G>A | NP_060116.2:p.Arg323Gln | |
| NM_017646.5:c.968G>A | NP_060116.2:p.Arg323Gln | |
| NR_132401.1:n.984G>A | ||
| NR_132402.1:n.842G>A | ||
| NR_132403.1:n.838G>A | ||
| NR_132404.1:n.838G>A | ||
| NR_132405.1:n.834G>A | ||
| NR_132406.1:n.725G>A | ||
| NR_132407.1:n.602G>A | ||
| NR_132408.1:n.598G>A | ||
| NR_132409.1:n.459G>A | ||
| NR_132410.1:n.485G>A | ||
| NR_132412.1:n.346G>A | ||
| NR_132413.1:n.195-2618G>A | ||
| NR_132414.1:n.195-5345G>A | ||
| NR_132415.1:n.1075G>A | ||
| XM_005270954.1:c.725G>A | XP_005271011.1:p.Arg242Gln | |
| XM_006710706.1:c.545G>A | XP_006710769.1:p.Arg182Gln | |
| XM_005270954.2:c.725G>A | XP_005271011.1:p.Arg242Gln | |
| XR_946672.2:n.1068G>A | ||
| NM_017646.6:c.968G>A MANE Select | NP_060116.2:p.Arg323Gln |