Linked Data
ClinVar Variation Id:
920288
ClinVar RCV Id:
RCV001178957
dbSNP Id:
rs201256614
gnomAD v4:
19-1226623-G-T
MyVariant Identifiers:
chr19:g.1226622G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226623G>T , CM000681.2:g.1226623G>T | GRCh38 |
| NC_000019.9:g.1226622G>T , CM000681.1:g.1226622G>T | GRCh37 |
| NC_000019.8:g.1177622G>T | NCBI36 |
| NG_007460.2:g.42217G>T , LRG_319:g.42217G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2879G>T | ENSP00000490268.2:n.*2879G>T | |
| ENST00000585748.3:c.906G>T | ENSP00000477641.2:p.Arg302= | |
| ENST00000585851.2:c.1104G>T | ENSP00000467912.2:p.Arg368= | |
| ENST00000326873.12:c.1278G>T MANE Select | ENSP00000324856.6:p.Arg426= | |
| ENST00000326873.11:c.1278G>T | ENSP00000324856.6:p.Arg426= | |
| ENST00000585465.2:n.3011G>T | ||
| ENST00000586243.5:c.1275G>T | ENSP00000467240.2:p.Arg425= | |
| ENST00000589152.5:n.1976G>T | ||
| NM_000455.4:c.1278G>T , LRG_319t1:c.1278G>T | NP_000446.1:p.Arg426= | |
| XM_005259617.1:c.1273G>T | XP_005259674.1:p.Ala425Ser | |
| XM_011528209.1:c.1051G>T | XP_011526511.1:p.Ala351Ser | |
| XM_005259617.3:c.1273G>T | XP_005259674.1:p.Ala425Ser | |
| XM_011528209.2:c.1051G>T | XP_011526511.1:p.Ala351Ser | |
| XR_001753738.2:n.2084G>T | ||
| XR_001753740.2:n.2054G>T | ||
| NM_000455.5:c.1278G>T MANE Select | NP_000446.1:p.Arg426= |