Linked Data
ClinVar Variation Id:
2034354
ClinVar RCV Id:
RCV002867823
dbSNP Id:
rs2145435827
gnomAD v4:
19-1226461-C-G
MyVariant Identifiers:
chr19:g.1226460C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226461C>G , CM000681.2:g.1226461C>G | GRCh38 |
| NC_000019.9:g.1226460C>G , CM000681.1:g.1226460C>G | GRCh37 |
| NC_000019.8:g.1177460C>G | NCBI36 |
| NG_007460.2:g.42055C>G , LRG_319:g.42055C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2717C>G | ENSP00000490268.2:n.*2717C>G | |
| ENST00000585748.3:c.744C>G | ENSP00000477641.2:p.Val248= | |
| ENST00000585851.2:c.942C>G | ENSP00000467912.2:p.Val314= | |
| ENST00000326873.12:c.1116C>G MANE Select | ENSP00000324856.6:p.Val372= | |
| ENST00000326873.11:c.1116C>G | ENSP00000324856.6:p.Val372= | |
| ENST00000585465.2:n.2849C>G | ||
| ENST00000586243.5:c.1116C>G | ENSP00000467240.2:p.Val372= | |
| ENST00000589152.5:n.1814C>G | ||
| NM_000455.4:c.1116C>G , LRG_319t1:c.1116C>G | NP_000446.1:p.Val372= | |
| XM_005259617.1:c.1111C>G | XP_005259674.1:p.Pro371Ala | |
| XM_011528209.1:c.889C>G | XP_011526511.1:p.Pro297Ala | |
| XM_005259617.3:c.1111C>G | XP_005259674.1:p.Pro371Ala | |
| XM_011528209.2:c.889C>G | XP_011526511.1:p.Pro297Ala | |
| XR_001753738.2:n.1922C>G | ||
| XR_001753740.2:n.1892C>G | ||
| NM_000455.5:c.1116C>G MANE Select | NP_000446.1:p.Val372= |