Linked Data
ClinVar Variation Id:
1153863
dbSNP Id:
rs781303270
ExAC:
19:1226559 G / A
gnomAD v2:
19-1226559-G-A
gnomAD v4:
19-1226560-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226560G>A , CM000681.2:g.1226560G>A | GRCh38 |
| NC_000019.9:g.1226559G>A , CM000681.1:g.1226559G>A | GRCh37 |
| NC_000019.8:g.1177559G>A | NCBI36 |
| NG_007460.2:g.42154G>A , LRG_319:g.42154G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2816G>A | ENSP00000490268.2:n.*2816G>A | |
| ENST00000585748.3:c.843G>A | ENSP00000477641.2:p.Arg281= | |
| ENST00000585851.2:c.1041G>A | ENSP00000467912.2:p.Arg347= | |
| ENST00000326873.12:c.1215G>A MANE Select | ENSP00000324856.6:p.Arg405= | |
| ENST00000326873.11:c.1215G>A | ENSP00000324856.6:p.Arg405= | |
| ENST00000585465.2:n.2948G>A | ||
| ENST00000586243.5:c.1215G>A | ENSP00000467240.2:p.Arg405= | |
| ENST00000589152.5:n.1913G>A | ||
| NM_000455.4:c.1215G>A , LRG_319t1:c.1215G>A | NP_000446.1:p.Arg405= | |
| XM_005259617.1:c.1210G>A | XP_005259674.1:p.Gly404Ser | |
| XM_011528209.1:c.988G>A | XP_011526511.1:p.Gly330Ser | |
| XM_005259617.3:c.1210G>A | XP_005259674.1:p.Gly404Ser | |
| XM_011528209.2:c.988G>A | XP_011526511.1:p.Gly330Ser | |
| XR_001753738.2:n.2021G>A | ||
| XR_001753740.2:n.1991G>A | ||
| NM_000455.5:c.1215G>A MANE Select | NP_000446.1:p.Arg405= |