Linked Data
ClinVar Variation Id:
3011231
ClinVar RCV Id:
RCV003869894
dbSNP Id:
rs1568391184
MyVariant Identifiers:
chr19:g.8649828C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8584944C>T , CM000681.2:g.8584944C>T | GRCh38 |
| NC_000019.9:g.8649828C>T , CM000681.1:g.8649828C>T | GRCh37 |
| NC_000019.8:g.8555828C>T | NCBI36 |
| NG_011840.2:g.30759G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597188.6:c.3153G>A MANE Select | ENSP00000471851.1:p.Gln1051= | |
| ENST00000270328.8:c.3153G>A | ENSP00000270328.4:p.Gln1051= | |
| ENST00000593913.5:c.*2030G>A | ENSP00000469901.1:n.*2030G>A | |
| ENST00000595838.5:c.1614G>A | ENSP00000470501.1:p.Gln538= | |
| ENST00000597188.5:c.3153G>A | ENSP00000471851.1:p.Gln1051= | |
| NM_001282352.1:c.1614G>A | NP_001269281.1:p.Gln538= | |
| NM_030957.3:c.3153G>A | NP_112219.3:p.Gln1051= | |
| XM_006722917.2:c.2196G>A | XP_006722980.1:p.Gln732= | |
| XM_011528331.1:c.3300G>A | XP_011526633.1:p.Gln1100= | |
| XM_011528332.1:c.3300G>A | XP_011526634.1:p.Gln1100= | |
| XM_011528333.1:c.3300G>A | XP_011526635.1:p.Gln1100= | |
| XM_011528334.1:c.2976G>A | XP_011526636.1:p.Gln992= | |
| XM_011528335.1:c.1869G>A | XP_011526637.1:p.Gln623= | |
| XM_011528336.1:c.1863G>A | XP_011526638.1:p.Gln621= | |
| XM_006722917.3:c.2196G>A | XP_006722980.1:p.Gln732= | |
| XM_017027338.2:c.3153G>A | XP_016882827.1:p.Gln1051= | |
| XM_017027339.1:c.1722G>A | XP_016882828.1:p.Gln574= | |
| XM_017027340.1:c.1716G>A | XP_016882829.1:p.Gln572= | |
| NM_030957.4:c.3153G>A MANE Select | NP_112219.3:p.Gln1051= | |
| NM_001282352.2:c.1614G>A | NP_001269281.1:p.Gln538= |