Linked Data
ClinVar Variation Id:
196025
dbSNP Id:
rs149560660
ExAC:
16:3786717 T / C
gnomAD v2:
16-3786717-T-C
gnomAD v3:
16-3736716-T-C
gnomAD v4:
16-3736716-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3736716T>C , CM000678.2:g.3736716T>C | GRCh38 |
| NC_000016.9:g.3786717T>C , CM000678.1:g.3786717T>C | GRCh37 |
| NC_000016.8:g.3726718T>C | NCBI36 |
| NG_009873.1:g.148405A>G | |
| NG_009873.2:g.148998A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4494A>G MANE Select | ENSP00000262367.5:p.Arg1498= | |
| ENST00000262367.9:c.4494A>G | ENSP00000262367.5:p.Arg1498= | |
| ENST00000382070.7:c.4380A>G | ENSP00000371502.3:p.Arg1460= | |
| ENST00000570939.2:c.3129A>G | ENSP00000461002.2:p.Arg1043= | |
| ENST00000571763.5:n.284A>G | ||
| ENST00000574740.1:n.315A>G | ||
| ENST00000576720.1:n.3317A>G | ||
| NM_001079846.1:c.4380A>G | NP_001073315.1:p.Arg1460= | |
| NM_004380.2:c.4494A>G | NP_004371.2:p.Arg1498= | |
| XM_005255124.3:c.4449A>G | XP_005255181.1:p.Arg1483= | |
| XM_005255125.3:c.4077A>G | XP_005255182.1:p.Arg1359= | |
| XM_006720848.2:c.4233A>G | XP_006720911.1:p.Arg1411= | |
| XM_011522380.1:c.4440A>G | XP_011520682.1:p.Arg1480= | |
| XM_011522381.1:c.3741A>G | XP_011520683.1:p.Arg1247= | |
| XM_005255124.4:c.4449A>G | XP_005255181.1:p.Arg1483= | |
| XM_005255125.4:c.4077A>G | XP_005255182.1:p.Arg1359= | |
| XM_006720848.3:c.4233A>G | XP_006720911.1:p.Arg1411= | |
| XM_011522381.2:c.3741A>G | XP_011520683.1:p.Arg1247= | |
| XM_017022944.1:c.4488A>G | XP_016878433.1:p.Arg1496= | |
| NM_004380.3:c.4494A>G MANE Select | NP_004371.2:p.Arg1498= |