Linked Data
ClinVar Variation Id:
418883
dbSNP Id:
rs374078532
gnomAD v2:
19-1226512-G-C
gnomAD v3:
19-1226513-G-C
gnomAD v4:
19-1226513-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226513G>C , CM000681.2:g.1226513G>C | GRCh38 |
| NC_000019.9:g.1226512G>C , CM000681.1:g.1226512G>C | GRCh37 |
| NC_000019.8:g.1177512G>C | NCBI36 |
| NG_007460.2:g.42107G>C , LRG_319:g.42107G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2769G>C | ENSP00000490268.2:n.*2769G>C | |
| ENST00000585748.3:c.796G>C | ENSP00000477641.2:p.Val266Leu | |
| ENST00000585851.2:c.994G>C | ENSP00000467912.2:p.Val332Leu | |
| ENST00000326873.12:c.1168G>C MANE Select | ENSP00000324856.6:p.Val390Leu | |
| ENST00000326873.11:c.1168G>C | ENSP00000324856.6:p.Val390Leu | |
| ENST00000585465.2:n.2901G>C | ||
| ENST00000586243.5:c.1168G>C | ENSP00000467240.2:p.Val390Leu | |
| ENST00000589152.5:n.1866G>C | ||
| NM_000455.4:c.1168G>C , LRG_319t1:c.1168G>C | NP_000446.1:p.Val390Leu | |
| XM_005259617.1:c.1163G>C | XP_005259674.1:p.Arg388Pro | |
| XM_011528209.1:c.941G>C | XP_011526511.1:p.Arg314Pro | |
| XM_005259617.3:c.1163G>C | XP_005259674.1:p.Arg388Pro | |
| XM_011528209.2:c.941G>C | XP_011526511.1:p.Arg314Pro | |
| XR_001753738.2:n.1974G>C | ||
| XR_001753740.2:n.1944G>C | ||
| NM_000455.5:c.1168G>C MANE Select | NP_000446.1:p.Val390Leu |