Linked Data
ClinVar Variation Id:
1046437
ClinVar RCV Id:
RCV001350996
dbSNP Id:
rs200770910
ExAC:
3:15512053 C / T
gnomAD v2:
3-15512053-C-T
gnomAD v3:
3-15470546-C-T
gnomAD v4:
3-15470546-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15470546C>T , CM000665.2:g.15470546C>T | GRCh38 |
| NC_000003.11:g.15512053C>T , CM000665.1:g.15512053C>T | GRCh37 |
| NC_000003.10:g.15487057C>T | NCBI36 |
| NG_009032.1:g.56206G>A | |
| NG_009032.2:g.56206G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383788.10:c.707G>A MANE Select | ENSP00000373298.3:p.Arg236Gln | |
| ENST00000604401.2:n.703G>A | ||
| ENST00000679838.1:c.*469G>A | ENSP00000505708.1:n.*469G>A | |
| ENST00000680545.1:n.473G>A | ||
| ENST00000681097.1:c.707G>A | ENSP00000505397.1:p.Arg236Gln | |
| ENST00000383781.8:c.677G>A | ENSP00000373291.3:p.Arg226Gln | |
| ENST00000383786.9:c.605G>A | ENSP00000373296.3:p.Arg202Gln | |
| ENST00000383788.9:c.707G>A | ENSP00000373298.3:p.Arg236Gln | |
| ENST00000603808.5:c.707G>A | ENSP00000474271.1:p.Arg236Gln | |
| ENST00000605797.1:c.536G>A | ENSP00000474936.1:p.Arg179Gln | |
| NM_005677.3:c.707G>A | NP_005668.2:p.Arg236Gln | |
| NM_080538.2:c.677G>A | NP_536799.1:p.Arg226Gln | |
| NM_080539.3:c.605G>A | NP_536800.2:p.Arg202Gln | |
| NM_005677.4:c.707G>A MANE Select | NP_005668.2:p.Arg236Gln | |
| NM_080539.4:c.605G>A | NP_536800.2:p.Arg202Gln |