Linked Data
ClinVar Variation Id:
367002
ClinVar RCV Id:
RCV000405225
dbSNP Id:
rs113754532
ExAC:
9:4286344 T / C
gnomAD v2:
9-4286344-T-C
gnomAD v3:
9-4286344-T-C
gnomAD v4:
9-4286344-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.4286344T>C , CM000671.2:g.4286344T>C | GRCh38 |
| NC_000009.11:g.4286344T>C , CM000671.1:g.4286344T>C | GRCh37 |
| NC_000009.10:g.4276344T>C | NCBI36 |
| NG_011782.1:g.18692A>G | |
| NG_011782.2:g.18692A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000491889.6:c.82A>G | ENSP00000419914.1:p.Ile28Val | |
| ENST00000682749.1:c.-78+13077A>G | ENSP00000507306.1:n.-78+13077A>G | |
| ENST00000381971.8:c.82A>G MANE Select | ENSP00000371398.3:p.Ile28Val | |
| ENST00000381971.7:c.82A>G | ENSP00000371398.3:p.Ile28Val | |
| ENST00000465708.5:n.676A>G | ||
| ENST00000471664.1:n.764A>G | ||
| ENST00000477901.5:c.82A>G | ENSP00000417794.1:p.Ile28Val | |
| ENST00000478844.5:c.-78+12040A>G | ENSP00000418005.1:n.-78+12040A>G | |
| ENST00000481827.5:c.82A>G | ENSP00000417883.1:p.Ile28Val | |
| ENST00000490709.1:n.416+13077A>G | ||
| ENST00000491889.5:c.82A>G | ENSP00000419914.1:p.Ile28Val | |
| NM_001042413.1:c.82A>G | NP_001035878.1:p.Ile28Val | |
| XM_005251386.3:c.-78+13077A>G | XP_005251443.1:n.-78+13077A>G | |
| XM_005251387.3:c.-377A>G | XP_005251444.1:n.-377A>G | |
| XM_005251388.3:c.-71+13077A>G | XP_005251445.1:n.-71+13077A>G | |
| XM_005251389.3:c.82A>G | XP_005251446.1:p.Ile28Val | |
| XM_006716731.2:c.82A>G | XP_006716794.1:p.Ile28Val | |
| XM_011517763.1:c.82A>G | XP_011516065.1:p.Ile28Val | |
| XM_011517764.1:c.82A>G | XP_011516066.1:p.Ile28Val | |
| XM_011517765.1:c.82A>G | XP_011516067.1:p.Ile28Val | |
| XM_011517767.1:c.-377A>G | XP_011516069.1:n.-377A>G | |
| XM_011517768.1:c.82A>G | XP_011516070.1:p.Ile28Val | |
| XM_011517769.1:c.82A>G | XP_011516071.1:p.Ile28Val | |
| XR_929206.1:n.848A>G | ||
| XM_005251386.4:c.-78+13077A>G | XP_005251443.1:n.-78+13077A>G | |
| XM_005251387.4:c.-377A>G | XP_005251444.1:n.-377A>G | |
| XM_005251388.4:c.-71+13077A>G | XP_005251445.1:n.-71+13077A>G | |
| XM_005251389.5:c.82A>G | XP_005251446.1:p.Ile28Val | |
| XM_006716731.3:c.82A>G | XP_006716794.1:p.Ile28Val | |
| XM_011517763.2:c.82A>G | XP_011516065.1:p.Ile28Val | |
| XM_011517764.2:c.82A>G | XP_011516066.1:p.Ile28Val | |
| XM_011517765.2:c.82A>G | XP_011516067.1:p.Ile28Val | |
| XM_011517767.3:c.-377A>G | XP_011516069.1:n.-377A>G | |
| XM_011517769.2:c.82A>G | XP_011516071.1:p.Ile28Val | |
| XR_929206.2:n.844A>G | ||
| NM_001042413.2:c.82A>G MANE Select | NP_001035878.1:p.Ile28Val |