Linked Data
ClinVar Variation Id:
1005668
ClinVar RCV Id:
RCV001302584
dbSNP Id:
rs779591050
ExAC:
14:50666461 C / T
gnomAD v2:
14-50666461-C-T
gnomAD v3:
14-50199743-C-T
gnomAD v4:
14-50199743-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50199743C>T , CM000676.2:g.50199743C>T | GRCh38 |
| NC_000014.8:g.50666461C>T , CM000676.1:g.50666461C>T | GRCh37 |
| NC_000014.7:g.49736211C>T | NCBI36 |
| NG_051073.1:g.36951G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.458G>A MANE Select | ENSP00000216373.5:p.Arg153Gln | |
| ENST00000216373.9:c.458G>A | ENSP00000216373.5:p.Arg153Gln | |
| ENST00000543680.5:c.458G>A | ENSP00000445328.1:p.Arg153Gln | |
| ENST00000555666.1:n.637G>A | ||
| ENST00000556469.5:n.429G>A | ||
| NM_006939.2:c.458G>A | NP_008870.2:p.Arg153Gln | |
| XM_005268021.1:c.278G>A | XP_005268078.1:p.Arg93Gln | |
| XM_011537103.1:c.419G>A | XP_011535405.1:p.Arg140Gln | |
| XM_011537104.1:c.458G>A | XP_011535406.1:p.Arg153Gln | |
| XR_943842.1:n.1039+15871C>T | ||
| XR_943843.1:n.1039+15871C>T | ||
| NM_006939.3:c.458G>A | NP_008870.2:p.Arg153Gln | |
| NM_006939.4:c.458G>A MANE Select | NP_008870.2:p.Arg153Gln |