Linked Data
ClinVar Variation Id:
2167661
ClinVar RCV Id:
RCV003086558
dbSNP Id:
rs777432809
ExAC:
12:116675417 T / C
gnomAD v2:
12-116675417-T-C
gnomAD v3:
12-116237612-T-C
gnomAD v4:
12-116237612-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116237612T>C , CM000674.2:g.116237612T>C | GRCh38 |
| NC_000012.11:g.116675417T>C , CM000674.1:g.116675417T>C | GRCh37 |
| NC_000012.10:g.115159800T>C | NCBI36 |
| NG_023366.1:g.44575A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.166A>G MANE Select | ENSP00000281928.3:p.Ile56Val | |
| ENST00000548743.2:c.136A>G | ENSP00000448553.2:p.Ile46Val | |
| ENST00000551197.2:c.116A>G | ||
| ENST00000647567.1:c.76A>G | ENSP00000497136.1:p.Ile26Val | |
| ENST00000650226.1:c.166A>G | ENSP00000496981.1:p.Ile56Val | |
| ENST00000650375.1:n.328A>G | ||
| ENST00000281928.7:c.166A>G | ENSP00000281928.3:p.Ile56Val | |
| ENST00000548743.1:c.136A>G | ENSP00000448553.1:p.Ile46Val | |
| ENST00000551197.1:n.116A>G | ||
| NM_015335.4:c.166A>G | NP_056150.1:p.Ile56Val | |
| XM_011538080.1:c.166A>G | XP_011536382.1:p.Ile56Val | |
| XM_011538081.1:c.166A>G | XP_011536383.1:p.Ile56Val | |
| XM_011538082.1:c.136A>G | XP_011536384.1:p.Ile46Val | |
| XM_011538080.2:c.166A>G | XP_011536382.1:p.Ile56Val | |
| XM_011538081.2:c.166A>G | XP_011536383.1:p.Ile56Val | |
| XM_011538082.2:c.136A>G | XP_011536384.1:p.Ile46Val | |
| XM_017019090.1:c.166A>G | XP_016874579.1:p.Ile56Val | |
| NM_015335.5:c.166A>G MANE Select | NP_056150.1:p.Ile56Val |