Linked Data
ClinVar Variation Id:
818742
dbSNP Id:
rs1253803683
gnomAD v2:
19-1226606-G-A
gnomAD v3:
19-1226607-G-A
gnomAD v4:
19-1226607-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226607G>A , CM000681.2:g.1226607G>A | GRCh38 |
| NC_000019.9:g.1226606G>A , CM000681.1:g.1226606G>A | GRCh37 |
| NC_000019.8:g.1177606G>A | NCBI36 |
| NG_007460.2:g.42201G>A , LRG_319:g.42201G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2863G>A | ENSP00000490268.2:n.*2863G>A | |
| ENST00000585748.3:c.890G>A | ENSP00000477641.2:p.Ser297Asn | |
| ENST00000585851.2:c.1088G>A | ENSP00000467912.2:p.Ser363Asn | |
| ENST00000326873.12:c.1262G>A MANE Select | ENSP00000324856.6:p.Ser421Asn | |
| ENST00000326873.11:c.1262G>A | ENSP00000324856.6:p.Ser421Asn | |
| ENST00000585465.2:n.2995G>A | ||
| ENST00000586243.5:c.1259G>A | ENSP00000467240.2:p.Ser420Asn | |
| ENST00000589152.5:n.1960G>A | ||
| NM_000455.4:c.1262G>A , LRG_319t1:c.1262G>A | NP_000446.1:p.Ser421Asn | |
| XM_005259617.1:c.1257G>A | XP_005259674.1:p.Gln419= | |
| XM_011528209.1:c.1035G>A | XP_011526511.1:p.Gln345= | |
| XM_005259617.3:c.1257G>A | XP_005259674.1:p.Gln419= | |
| XM_011528209.2:c.1035G>A | XP_011526511.1:p.Gln345= | |
| XR_001753738.2:n.2068G>A | ||
| XR_001753740.2:n.2038G>A | ||
| NM_000455.5:c.1262G>A MANE Select | NP_000446.1:p.Ser421Asn |