Linked Data
ClinVar Variation Id:
347827
ClinVar RCV Id:
RCV000333369
dbSNP Id:
rs886059154
gnomAD v2:
4-155526111-T-C
gnomAD v4:
4-154604959-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154604959T>C , CM000666.2:g.154604959T>C | GRCh38 |
| NC_000004.11:g.155526111T>C , CM000666.1:g.155526111T>C | GRCh37 |
| NC_000004.10:g.155745561T>C | NCBI36 |
| NG_008834.1:g.12792A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336098.8:c.1237A>G MANE Select | ENSP00000336829.3:p.Ile413Val | |
| ENST00000336098.7:c.1237A>G | ENSP00000336829.3:p.Ile413Val | |
| ENST00000404648.7:c.1237A>G | ENSP00000384860.3:p.Ile413Val | |
| ENST00000405164.5:c.1261A>G | ENSP00000384101.1:p.Ile421Val | |
| ENST00000407946.5:c.1261A>G | ENSP00000384552.1:p.Ile421Val | |
| ENST00000465913.1:n.785A>G | ||
| ENST00000492082.5:n.1779A>G | ||
| NM_000509.4:c.1237A>G | NP_000500.2:p.Ile413Val | |
| NM_000509.5:c.1237A>G | NP_000500.2:p.Ile413Val | |
| NM_021870.2:c.1237A>G | NP_068656.2:p.Ile413Val | |
| NM_021870.3:c.1237A>G MANE Select | NP_068656.2:p.Ile413Val | |
| NM_000509.6:c.1237A>G | NP_000500.2:p.Ile413Val |