Linked Data
ClinVar Variation Id:
185704
dbSNP Id:
rs786202390
gnomAD v2:
19-1226508-G-A
gnomAD v3:
19-1226509-G-A
gnomAD v4:
19-1226509-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226509G>A , CM000681.2:g.1226509G>A | GRCh38 |
| NC_000019.9:g.1226508G>A , CM000681.1:g.1226508G>A | GRCh37 |
| NC_000019.8:g.1177508G>A | NCBI36 |
| NG_007460.2:g.42103G>A , LRG_319:g.42103G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2765G>A | ENSP00000490268.2:n.*2765G>A | |
| ENST00000585748.3:c.792G>A | ENSP00000477641.2:p.Lys264= | |
| ENST00000585851.2:c.990G>A | ENSP00000467912.2:p.Lys330= | |
| ENST00000326873.12:c.1164G>A MANE Select | ENSP00000324856.6:p.Lys388= | |
| ENST00000326873.11:c.1164G>A | ENSP00000324856.6:p.Lys388= | |
| ENST00000585465.2:n.2897G>A | ||
| ENST00000586243.5:c.1164G>A | ENSP00000467240.2:p.Lys388= | |
| ENST00000589152.5:n.1862G>A | ||
| NM_000455.4:c.1164G>A , LRG_319t1:c.1164G>A | NP_000446.1:p.Lys388= | |
| XM_005259617.1:c.1159G>A | XP_005259674.1:p.Gly387Ser | |
| XM_011528209.1:c.937G>A | XP_011526511.1:p.Gly313Ser | |
| XM_005259617.3:c.1159G>A | XP_005259674.1:p.Gly387Ser | |
| XM_011528209.2:c.937G>A | XP_011526511.1:p.Gly313Ser | |
| XR_001753738.2:n.1970G>A | ||
| XR_001753740.2:n.1940G>A | ||
| NM_000455.5:c.1164G>A MANE Select | NP_000446.1:p.Lys388= |