Linked Data
ClinVar Variation Id:
1095870
ClinVar RCV Id:
RCV001416896
dbSNP Id:
rs2129838464
gnomAD v4:
8-89971230-C-A
MyVariant Identifiers:
chr8:g.90983458C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89971230C>A , CM000670.2:g.89971230C>A | GRCh38 |
| NC_000008.10:g.90983458C>A , CM000670.1:g.90983458C>A | GRCh37 |
| NC_000008.9:g.91052634C>A | NCBI36 |
| NG_008860.1:g.18442G>T , LRG_158:g.18442G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.1947G>T | ||
| ENST00000517337.2:c.399G>T | ENSP00000429971.2:p.Arg133= | |
| ENST00000523444.2:c.399G>T | ENSP00000428252.2:p.Arg133= | |
| ENST00000697292.1:c.645G>T | ENSP00000513229.1:p.Arg215= | |
| ENST00000697293.1:c.645G>T | ENSP00000513230.1:p.Arg215= | |
| ENST00000697294.1:c.*256G>T | ENSP00000513231.1:n.*256G>T | |
| ENST00000697295.1:c.98G>T | ENSP00000513232.1:p.Gly33Val | |
| ENST00000697296.1:c.*313G>T | ENSP00000513233.1:n.*313G>T | |
| ENST00000697297.1:n.2430G>T | ||
| ENST00000697298.1:c.399G>T | ENSP00000513234.1:p.Arg133= | |
| ENST00000697299.1:c.399G>T | ENSP00000513235.1:p.Arg133= | |
| ENST00000697300.1:c.*249G>T | ENSP00000513236.1:n.*249G>T | |
| ENST00000697301.1:c.*166G>T | ENSP00000513237.1:n.*166G>T | |
| ENST00000697302.1:c.*166G>T | ENSP00000513238.1:n.*166G>T | |
| ENST00000697303.1:c.*249G>T | ENSP00000513239.1:n.*249G>T | |
| ENST00000697304.1:c.585-6723G>T | ENSP00000513240.1:n.585-6723G>T | |
| ENST00000697306.1:c.480+9504G>T | ENSP00000513241.1:n.480+9504G>T | |
| ENST00000697307.1:c.645G>T | ENSP00000513242.1:p.Arg215= | |
| ENST00000697308.1:c.645G>T | ENSP00000513243.1:p.Arg215= | |
| ENST00000697309.1:c.645G>T | ENSP00000513244.1:p.Arg215= | |
| ENST00000697310.1:c.645G>T | ENSP00000513245.1:p.Arg215= | |
| ENST00000697311.1:c.645G>T | ENSP00000513246.1:p.Arg215= | |
| ENST00000697312.1:c.*43G>T | ENSP00000513247.1:n.*43G>T | |
| ENST00000697313.1:n.2436G>T | ||
| ENST00000697314.1:n.2436G>T | ||
| ENST00000697315.1:c.645G>T | ENSP00000513248.1:p.Arg215= | |
| ENST00000697316.1:n.766G>T | ||
| ENST00000697317.1:n.755G>T | ||
| ENST00000697318.1:n.757G>T | ||
| ENST00000265433.8:c.645G>T MANE Select | ENSP00000265433.4:p.Arg215= | |
| ENST00000265433.7:c.645G>T | ENSP00000265433.3:p.Arg215= | |
| ENST00000396252.6:c.*518G>T | ENSP00000379551.2:n.*518G>T | |
| ENST00000409330.5:c.399G>T | ENSP00000386924.1:p.Arg133= | |
| ENST00000517772.5:c.399G>T | ENSP00000428717.1:p.Arg133= | |
| ENST00000519426.5:c.381G>T | ENSP00000430983.1:p.Arg127= | |
| NM_001024688.2:c.399G>T | NP_001019859.1:p.Arg133= | |
| NM_002485.4:c.645G>T , LRG_158t1:c.645G>T | NP_002476.2:p.Arg215= | |
| XM_011517044.1:c.621G>T | XP_011515346.1:p.Arg207= | |
| XM_011517045.1:c.399G>T | XP_011515347.1:p.Arg133= | |
| XM_011517046.1:c.645G>T | XP_011515348.1:p.Arg215= | |
| XR_928335.1:n.782G>T | ||
| XM_017013460.1:c.-235G>T | XP_016868949.1:n.-235G>T | |
| XM_017013462.2:c.-235G>T | XP_016868951.1:n.-235G>T | |
| XM_024447163.1:c.399G>T | XP_024302931.1:p.Arg133= | |
| XM_024447164.1:c.399G>T | XP_024302932.1:p.Arg133= | |
| XM_024447165.1:c.-235G>T | XP_024302933.1:n.-235G>T | |
| NM_002485.5:c.645G>T MANE Select | NP_002476.2:p.Arg215= | |
| NM_001024688.3:c.399G>T | NP_001019859.1:p.Arg133= |