Linked Data
ClinVar Variation Id:
259815
dbSNP Id:
rs34315917
ExAC:
18:55359082 T / C
gnomAD v2:
18-55359082-T-C
gnomAD v3:
18-57691850-T-C
gnomAD v4:
18-57691850-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57691850T>C , CM000680.2:g.57691850T>C | GRCh38 |
| NC_000018.9:g.55359082T>C , CM000680.1:g.55359082T>C | GRCh37 |
| NC_000018.8:g.53510080T>C | NCBI36 |
| NG_007148.2:g.116246A>G | |
| NG_007148.3:g.116973A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642462.1:c.1177A>G | ENSP00000494712.1:p.Ile393Val | |
| ENST00000648039.1:c.1177A>G | ENSP00000497863.1:p.Ile393Val | |
| ENST00000648467.1:c.1010A>G | ||
| ENST00000648908.2:c.1177A>G MANE Select | ENSP00000497896.1:p.Ile393Val | |
| ENST00000283684.8:c.1177A>G | ENSP00000283684.4:p.Ile393Val | |
| ENST00000536015.5:c.1177A>G | ENSP00000445359.1:p.Ile393Val | |
| NM_005603.4:c.1177A>G | NP_005594.1:p.Ile393Val | |
| XM_006722481.2:c.1177A>G | XP_006722544.1:p.Ile393Val | |
| XM_011526020.1:c.1177A>G | XP_011524322.1:p.Ile393Val | |
| XM_011526021.1:c.1177A>G | XP_011524323.1:p.Ile393Val | |
| XM_011526022.1:c.1177A>G | XP_011524324.1:p.Ile393Val | |
| XM_011526023.1:c.1063A>G | XP_011524325.1:p.Ile355Val | |
| XM_011526024.1:c.457A>G | XP_011524326.1:p.Ile153Val | |
| XR_935525.1:n.32-4095T>C | ||
| XR_935526.1:n.32-4095T>C | ||
| NM_005603.6:c.1177A>G | NP_005594.2:p.Ile393Val | |
| XM_006722481.4:c.1177A>G | XP_006722544.1:p.Ile393Val | |
| XM_011526023.3:c.1063A>G | XP_011524325.1:p.Ile355Val | |
| NM_001374385.1:c.1177A>G MANE Select | NP_001361314.1:p.Ile393Val | |
| NM_001374386.1:c.1027A>G | NP_001361315.1:p.Ile343Val |