Linked Data
ClinVar Variation Id:
1763458
ClinVar RCV Id:
RCV002447553
dbSNP Id:
rs1253803683
gnomAD v2:
19-1226606-G-T
gnomAD v3:
19-1226607-G-T
gnomAD v4:
19-1226607-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226607G>T , CM000681.2:g.1226607G>T | GRCh38 |
| NC_000019.9:g.1226606G>T , CM000681.1:g.1226606G>T | GRCh37 |
| NC_000019.8:g.1177606G>T | NCBI36 |
| NG_007460.2:g.42201G>T , LRG_319:g.42201G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2863G>T | ENSP00000490268.2:n.*2863G>T | |
| ENST00000585748.3:c.890G>T | ENSP00000477641.2:p.Ser297Ile | |
| ENST00000585851.2:c.1088G>T | ENSP00000467912.2:p.Ser363Ile | |
| ENST00000326873.12:c.1262G>T MANE Select | ENSP00000324856.6:p.Ser421Ile | |
| ENST00000326873.11:c.1262G>T | ENSP00000324856.6:p.Ser421Ile | |
| ENST00000585465.2:n.2995G>T | ||
| ENST00000586243.5:c.1259G>T | ENSP00000467240.2:p.Ser420Ile | |
| ENST00000589152.5:n.1960G>T | ||
| NM_000455.4:c.1262G>T , LRG_319t1:c.1262G>T | NP_000446.1:p.Ser421Ile | |
| XM_005259617.1:c.1257G>T | XP_005259674.1:p.Gln419His | |
| XM_011528209.1:c.1035G>T | XP_011526511.1:p.Gln345His | |
| XM_005259617.3:c.1257G>T | XP_005259674.1:p.Gln419His | |
| XM_011528209.2:c.1035G>T | XP_011526511.1:p.Gln345His | |
| XR_001753738.2:n.2068G>T | ||
| XR_001753740.2:n.2038G>T | ||
| NM_000455.5:c.1262G>T MANE Select | NP_000446.1:p.Ser421Ile |