Linked Data
ClinVar Variation Id:
458015
dbSNP Id:
rs1247102370
gnomAD v2:
19-1226483-A-G
gnomAD v3:
19-1226484-A-G
gnomAD v4:
19-1226484-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226484A>G , CM000681.2:g.1226484A>G | GRCh38 |
| NC_000019.9:g.1226483A>G , CM000681.1:g.1226483A>G | GRCh37 |
| NC_000019.8:g.1177483A>G | NCBI36 |
| NG_007460.2:g.42078A>G , LRG_319:g.42078A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2740A>G | ENSP00000490268.2:n.*2740A>G | |
| ENST00000585748.3:c.767A>G | ENSP00000477641.2:p.Asn256Ser | |
| ENST00000585851.2:c.965A>G | ENSP00000467912.2:p.Asn322Ser | |
| ENST00000326873.12:c.1139A>G MANE Select | ENSP00000324856.6:p.Asn380Ser | |
| ENST00000326873.11:c.1139A>G | ENSP00000324856.6:p.Asn380Ser | |
| ENST00000585465.2:n.2872A>G | ||
| ENST00000586243.5:c.1139A>G | ENSP00000467240.2:p.Asn380Ser | |
| ENST00000589152.5:n.1837A>G | ||
| NM_000455.4:c.1139A>G , LRG_319t1:c.1139A>G | NP_000446.1:p.Asn380Ser | |
| XM_005259617.1:c.1134A>G | XP_005259674.1:p.Gln378= | |
| XM_011528209.1:c.912A>G | XP_011526511.1:p.Gln304= | |
| XM_005259617.3:c.1134A>G | XP_005259674.1:p.Gln378= | |
| XM_011528209.2:c.912A>G | XP_011526511.1:p.Gln304= | |
| XR_001753738.2:n.1945A>G | ||
| XR_001753740.2:n.1915A>G | ||
| NM_000455.5:c.1139A>G MANE Select | NP_000446.1:p.Asn380Ser |