Linked Data
ClinVar Variation Id:
46703
ClinVar RCV Id:
RCV000039973
RCV000205601
RCV000267036
RCV000320876
RCV000325323
RCV000380195
RCV000384525
RCV000770074
RCV001529752
dbSNP Id:
rs72648969
ExAC:
2:179586756 C / T
gnomAD v2:
2-179586756-C-T
gnomAD v3:
2-178722029-C-T
gnomAD v4:
2-178722029-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178722029C>T , CM000664.2:g.178722029C>T | GRCh38 |
| NC_000002.11:g.179586756C>T , CM000664.1:g.179586756C>T | GRCh37 |
| NC_000002.10:g.179295001C>T | NCBI36 |
| NG_011618.3:g.113774G>A , LRG_391:g.113774G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.18902G>A | ENSP00000343764.6:p.Arg6301Gln | |
| ENST00000342175.11:c.13858+16053G>A | ENSP00000340554.6:n.13858+16053G>A | |
| ENST00000359218.10:c.13657+16053G>A | ENSP00000352154.5:n.13657+16053G>A | |
| ENST00000342175.10:c.13858+16053G>A | ENSP00000340554.6:n.13858+16053G>A | |
| ENST00000342992.10:c.18902G>A | ENSP00000343764.6:p.Arg6301Gln | |
| ENST00000359218.9:c.13657+16053G>A | ENSP00000352154.5:n.13657+16053G>A | |
| ENST00000460472.6:c.13282+16053G>A | ENSP00000434586.1:n.13282+16053G>A | |
| ENST00000589042.5:c.22634G>A MANE Select | ENSP00000467141.1:p.Arg7545Gln | |
| ENST00000591111.5:c.21683G>A | ENSP00000465570.1:p.Arg7228Gln | |
| ENST00000615779.4:c.21683G>A | ENSP00000483597.1:p.Arg7228Gln | |
| NM_001256850.1:c.21683G>A | NP_001243779.1:p.Arg7228Gln | |
| NM_001267550.2:c.22634G>A MANE Select | NP_001254479.2:p.Arg7545Gln | |
| NM_003319.4:c.13282+16053G>A | NP_003310.4:n.13282+16053G>A | |
| NM_133378.4:c.18902G>A | NP_596869.4:p.Arg6301Gln | |
| NM_133432.3:c.13657+16053G>A | NP_597676.3:n.13657+16053G>A | |
| NM_133437.4:c.13858+16053G>A | NP_597681.4:n.13858+16053G>A | |
| XM_011511729.1:c.21731G>A | XP_011510031.1:p.Arg7244Gln | |
| XM_011511730.1:c.13468+16053G>A | XP_011510032.1:n.13468+16053G>A | |
| XM_011511731.1:c.13327+16053G>A | XP_011510033.1:n.13327+16053G>A | |
| XM_017004819.1:c.21686G>A | XP_016860308.1:p.Arg7229Gln | |
| XM_017004820.1:c.18905G>A | XP_016860309.1:p.Arg6302Gln | |
| XM_017004821.1:c.18902G>A | XP_016860310.1:p.Arg6301Gln | |
| XM_017004822.1:c.21686G>A | XP_016860311.1:p.Arg7229Gln | |
| XM_017004823.1:c.13423+16053G>A | XP_016860312.1:n.13423+16053G>A | |
| XM_024453094.1:c.21686G>A | XP_024308862.1:p.Arg7229Gln | |
| XM_024453095.1:c.21686G>A | XP_024308863.1:p.Arg7229Gln | |
| XM_024453096.1:c.21686G>A | XP_024308864.1:p.Arg7229Gln | |
| XM_024453097.1:c.21686G>A | XP_024308865.1:p.Arg7229Gln | |
| XM_024453098.1:c.21686G>A | XP_024308866.1:p.Arg7229Gln | |
| XM_024453099.1:c.13423+16053G>A | XP_024308867.1:n.13423+16053G>A |