Linked Data
ClinVar Variation Id:
1098615
ClinVar RCV Id:
RCV001420559
dbSNP Id:
rs147575100
ExAC:
12:110778758 A / G
gnomAD v2:
12-110778758-A-G
gnomAD v3:
12-110340953-A-G
gnomAD v4:
12-110340953-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110340953A>G , CM000674.2:g.110340953A>G | GRCh38 |
| NC_000012.11:g.110778758A>G , CM000674.1:g.110778758A>G | GRCh37 |
| NC_000012.10:g.109263141A>G | NCBI36 |
| NG_007097.2:g.64327A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539276.7:c.2056A>G MANE Select | ENSP00000440045.2:p.Ile686Val | |
| ENST00000308664.10:c.2056A>G | ENSP00000311186.6:p.Ile686Val | |
| ENST00000377685.9:c.*1896A>G | ENSP00000366913.4:n.*1896A>G | |
| ENST00000539276.6:c.2056A>G | ENSP00000440045.2:p.Ile686Val | |
| ENST00000548169.2:c.1727A>G | ||
| NM_001681.3:c.2056A>G | NP_001672.1:p.Ile686Val | |
| NM_170665.3:c.2056A>G | NP_733765.1:p.Ile686Val | |
| XM_005253888.1:c.2056A>G | XP_005253945.1:p.Ile686Val | |
| XM_011538402.1:c.2056A>G | XP_011536704.1:p.Ile686Val | |
| XM_011538403.1:c.2056A>G | XP_011536705.1:p.Ile686Val | |
| XR_243009.1:n.2062A>G | ||
| XM_005253888.3:c.2056A>G | XP_005253945.1:p.Ile686Val | |
| XM_011538402.3:c.2056A>G | XP_011536704.1:p.Ile686Val | |
| XR_002957329.1:n.2062A>G | ||
| XR_243009.3:n.2062A>G | ||
| NM_170665.4:c.2056A>G MANE Select | NP_733765.1:p.Ile686Val | |
| NM_001681.4:c.2056A>G | NP_001672.1:p.Ile686Val |