Linked Data
ClinVar Variation Id:
762035
ClinVar RCV Id:
RCV001444035
dbSNP Id:
rs786201491
MyVariant Identifiers:
chr19:g.1226496G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226497G>C , CM000681.2:g.1226497G>C | GRCh38 |
| NC_000019.9:g.1226496G>C , CM000681.1:g.1226496G>C | GRCh37 |
| NC_000019.8:g.1177496G>C | NCBI36 |
| NG_007460.2:g.42091G>C , LRG_319:g.42091G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2753G>C | ENSP00000490268.2:n.*2753G>C | |
| ENST00000585748.3:c.780G>C | ENSP00000477641.2:p.Arg260= | |
| ENST00000585851.2:c.978G>C | ENSP00000467912.2:p.Arg326= | |
| ENST00000326873.12:c.1152G>C MANE Select | ENSP00000324856.6:p.Arg384= | |
| ENST00000326873.11:c.1152G>C | ENSP00000324856.6:p.Arg384= | |
| ENST00000585465.2:n.2885G>C | ||
| ENST00000586243.5:c.1152G>C | ENSP00000467240.2:p.Arg384= | |
| ENST00000589152.5:n.1850G>C | ||
| NM_000455.4:c.1152G>C , LRG_319t1:c.1152G>C | NP_000446.1:p.Arg384= | |
| XM_005259617.1:c.1147G>C | XP_005259674.1:p.Gly383Arg | |
| XM_011528209.1:c.925G>C | XP_011526511.1:p.Gly309Arg | |
| XM_005259617.3:c.1147G>C | XP_005259674.1:p.Gly383Arg | |
| XM_011528209.2:c.925G>C | XP_011526511.1:p.Gly309Arg | |
| XR_001753738.2:n.1958G>C | ||
| XR_001753740.2:n.1928G>C | ||
| NM_000455.5:c.1152G>C MANE Select | NP_000446.1:p.Arg384= |