Linked Data
ClinVar Variation Id:
496944
ClinVar RCV Id:
RCV000593257
dbSNP Id:
rs200543687
ExAC:
14:91739814 C / T
gnomAD v2:
14-91739814-C-T
gnomAD v3:
14-91273470-C-T
gnomAD v4:
14-91273470-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91273470C>T , CM000676.2:g.91273470C>T | GRCh38 |
| NC_000014.8:g.91739814C>T , CM000676.1:g.91739814C>T | GRCh37 |
| NC_000014.7:g.90809567C>T | NCBI36 |
| NG_033118.1:g.149375G>A | |
| NG_033118.2:g.149375G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389857.11:c.5242G>A MANE Select | ENSP00000374507.6:p.Gly1748Arg | |
| ENST00000331194.8:c.814G>A | ENSP00000330332.8:p.Gly272Arg | |
| ENST00000334448.5:n.1054G>A | ||
| ENST00000389857.10:c.5242G>A | ENSP00000374507.6:p.Gly1748Arg | |
| ENST00000556726.5:c.1470G>A | ||
| NM_001080414.3:c.5242G>A | NP_001073883.2:p.Gly1748Arg | |
| XM_011536796.1:c.5134G>A | XP_011535098.1:p.Gly1712Arg | |
| XR_429316.2:n.5517G>A | ||
| XM_011536796.2:c.5134G>A | XP_011535098.1:p.Gly1712Arg | |
| XM_017021336.1:c.2323G>A | XP_016876825.1:p.Gly775Arg | |
| XR_429316.4:n.5515G>A | ||
| NM_001080414.4:c.5242G>A MANE Select | NP_001073883.2:p.Gly1748Arg |