Linked Data
ClinVar Variation Id:
705822
ClinVar RCV Id:
RCV001422418
dbSNP Id:
rs781606619
ExAC:
9:35057522 T / C
gnomAD v2:
9-35057522-T-C
gnomAD v3:
9-35057525-T-C
gnomAD v4:
9-35057525-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35057525T>C , CM000671.2:g.35057525T>C | GRCh38 |
| NC_000009.11:g.35057522T>C , CM000671.1:g.35057522T>C | GRCh37 |
| NC_000009.10:g.35047522T>C | NCBI36 |
| NG_007887.1:g.20218A>G , LRG_657:g.20218A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358901.11:c.2166A>G MANE Select | ENSP00000351777.6:p.Val722= | |
| ENST00000417448.2:c.2031A>G | ENSP00000399456.2:p.Val677= | |
| ENST00000448530.6:c.2031A>G | ENSP00000392088.2:p.Val677= | |
| ENST00000479300.2:n.694A>G | ||
| ENST00000676836.2:n.2909A>G | ||
| ENST00000677257.1:c.2160A>G | ENSP00000504354.1:p.Val720= | |
| ENST00000678018.1:c.*2137A>G | ENSP00000503811.1:n.*2137A>G | |
| ENST00000678465.1:c.*1178A>G | ENSP00000504259.1:n.*1178A>G | |
| ENST00000678650.1:c.2031A>G | ENSP00000503426.1:p.Val677= | |
| ENST00000679204.2:c.*807A>G | ENSP00000503131.2:n.*807A>G | |
| ENST00000679599.1:n.4755A>G | ||
| ENST00000679647.1:c.2084-430A>G | ENSP00000506216.1:n.2084-430A>G | |
| ENST00000679800.1:n.2565A>G | ||
| ENST00000679862.1:c.2028A>G | ENSP00000504990.1:p.Val676= | |
| ENST00000679902.1:c.2166A>G | ENSP00000506338.1:p.Val722= | |
| ENST00000680916.1:c.*131A>G | ENSP00000505769.1:n.*131A>G | |
| ENST00000681335.1:c.2010A>G | ENSP00000505230.1:p.Val670= | |
| ENST00000681537.1:c.6A>G | ENSP00000505847.1:p.Val2= | |
| ENST00000681690.1:n.3971A>G | ||
| ENST00000358901.10:c.2166A>G | ENSP00000351777.6:p.Val722= | |
| ENST00000466100.1:n.309A>G | ||
| ENST00000493886.5:n.2440A>G | ||
| NM_007126.3:c.2166A>G , LRG_657t1:c.2166A>G | NP_009057.1:p.Val722= | |
| NM_001354927.1:c.2031A>G | NP_001341856.1:p.Val677= | |
| NM_001354928.1:c.2031A>G | NP_001341857.1:p.Val677= | |
| NM_007126.4:c.2166A>G | NP_009057.1:p.Val722= | |
| NM_007126.5:c.2166A>G MANE Select | NP_009057.1:p.Val722= | |
| NM_001354927.2:c.2031A>G | NP_001341856.1:p.Val677= | |
| NM_001354928.2:c.2031A>G | NP_001341857.1:p.Val677= |