Linked Data
ClinVar Variation Id:
46717
ClinVar RCV Id:
RCV000039987
RCV000154089
RCV000270207
RCV000249580
RCV000299836
RCV000305761
RCV000402503
RCV000359255
RCV001081260
RCV001171039
RCV001358669
RCV004534871
dbSNP Id:
rs72648973
ExAC:
2:179585187 C / T
gnomAD v2:
2-179585187-C-T
gnomAD v3:
2-178720460-C-T
gnomAD v4:
2-178720460-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178720460C>T , CM000664.2:g.178720460C>T | GRCh38 |
| NC_000002.11:g.179585187C>T , CM000664.1:g.179585187C>T | GRCh37 |
| NC_000002.10:g.179293432C>T | NCBI36 |
| NG_011618.3:g.115343G>A , LRG_391:g.115343G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.19570G>A | ENSP00000343764.6:p.Asp6524Asn | |
| ENST00000342175.11:c.13858+17622G>A | ENSP00000340554.6:n.13858+17622G>A | |
| ENST00000359218.10:c.13657+17622G>A | ENSP00000352154.5:n.13657+17622G>A | |
| ENST00000342175.10:c.13858+17622G>A | ENSP00000340554.6:n.13858+17622G>A | |
| ENST00000342992.10:c.19570G>A | ENSP00000343764.6:p.Asp6524Asn | |
| ENST00000359218.9:c.13657+17622G>A | ENSP00000352154.5:n.13657+17622G>A | |
| ENST00000460472.6:c.13282+17622G>A | ENSP00000434586.1:n.13282+17622G>A | |
| ENST00000589042.5:c.23302G>A MANE Select | ENSP00000467141.1:p.Asp7768Asn | |
| ENST00000591111.5:c.22351G>A | ENSP00000465570.1:p.Asp7451Asn | |
| ENST00000615779.4:c.22351G>A | ENSP00000483597.1:p.Asp7451Asn | |
| NM_001256850.1:c.22351G>A | NP_001243779.1:p.Asp7451Asn | |
| NM_001267550.2:c.23302G>A MANE Select | NP_001254479.2:p.Asp7768Asn | |
| NM_003319.4:c.13282+17622G>A | NP_003310.4:n.13282+17622G>A | |
| NM_133378.4:c.19570G>A | NP_596869.4:p.Asp6524Asn | |
| NM_133432.3:c.13657+17622G>A | NP_597676.3:n.13657+17622G>A | |
| NM_133437.4:c.13858+17622G>A | NP_597681.4:n.13858+17622G>A | |
| XM_011511729.1:c.22399G>A | XP_011510031.1:p.Asp7467Asn | |
| XM_011511730.1:c.13468+17622G>A | XP_011510032.1:n.13468+17622G>A | |
| XM_011511731.1:c.13327+17622G>A | XP_011510033.1:n.13327+17622G>A | |
| XM_017004819.1:c.22354G>A | XP_016860308.1:p.Asp7452Asn | |
| XM_017004820.1:c.19573G>A | XP_016860309.1:p.Asp6525Asn | |
| XM_017004821.1:c.19570G>A | XP_016860310.1:p.Asp6524Asn | |
| XM_017004822.1:c.22354G>A | XP_016860311.1:p.Asp7452Asn | |
| XM_017004823.1:c.13423+17622G>A | XP_016860312.1:n.13423+17622G>A | |
| XM_024453094.1:c.22354G>A | XP_024308862.1:p.Asp7452Asn | |
| XM_024453095.1:c.22354G>A | XP_024308863.1:p.Asp7452Asn | |
| XM_024453096.1:c.22354G>A | XP_024308864.1:p.Asp7452Asn | |
| XM_024453097.1:c.22354G>A | XP_024308865.1:p.Asp7452Asn | |
| XM_024453098.1:c.22354G>A | XP_024308866.1:p.Asp7452Asn | |
| XM_024453099.1:c.13423+17622G>A | XP_024308867.1:n.13423+17622G>A |