Linked Data
ClinVar Variation Id:
761105
dbSNP Id:
rs1586053313
MyVariant Identifiers:
chr8:g.90965607T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89953379T>C , CM000670.2:g.89953379T>C | GRCh38 |
| NC_000008.10:g.90965607T>C , CM000670.1:g.90965607T>C | GRCh37 |
| NC_000008.9:g.91034783T>C | NCBI36 |
| NG_008860.1:g.36293A>G , LRG_158:g.36293A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.3012A>G | ||
| ENST00000517337.2:c.1464A>G | ENSP00000429971.2:p.Thr488= | |
| ENST00000523444.2:c.1464A>G | ENSP00000428252.2:p.Thr488= | |
| ENST00000697292.1:c.1710A>G | ENSP00000513229.1:p.Thr570= | |
| ENST00000697293.1:c.1710A>G | ENSP00000513230.1:p.Thr570= | |
| ENST00000697294.1:c.*1321A>G | ENSP00000513231.1:n.*1321A>G | |
| ENST00000697295.1:c.*1019A>G | ENSP00000513232.1:n.*1019A>G | |
| ENST00000697296.1:c.*1378A>G | ENSP00000513233.1:n.*1378A>G | |
| ENST00000697297.1:n.3495A>G | ||
| ENST00000697298.1:c.1464A>G | ENSP00000513234.1:p.Thr488= | |
| ENST00000697299.1:c.1464A>G | ENSP00000513235.1:p.Thr488= | |
| ENST00000697300.1:c.*1314A>G | ENSP00000513236.1:n.*1314A>G | |
| ENST00000697301.1:c.*1231A>G | ENSP00000513237.1:n.*1231A>G | |
| ENST00000697302.1:c.*1231A>G | ENSP00000513238.1:n.*1231A>G | |
| ENST00000697303.1:c.*1314A>G | ENSP00000513239.1:n.*1314A>G | |
| ENST00000697304.1:c.1398A>G | ENSP00000513240.1:p.Thr466= | |
| ENST00000697306.1:c.*710A>G | ENSP00000513241.1:n.*710A>G | |
| ENST00000697307.1:c.1710A>G | ENSP00000513242.1:p.Thr570= | |
| ENST00000697308.1:c.1710A>G | ENSP00000513243.1:p.Thr570= | |
| ENST00000697309.1:c.1710A>G | ENSP00000513244.1:p.Thr570= | |
| ENST00000697310.1:c.1710A>G | ENSP00000513245.1:p.Thr570= | |
| ENST00000697311.1:c.1710A>G | ENSP00000513246.1:p.Thr570= | |
| ENST00000697312.1:c.*1108A>G | ENSP00000513247.1:n.*1108A>G | |
| ENST00000697313.1:n.2687+16985A>G | ||
| ENST00000697314.1:n.3501A>G | ||
| ENST00000697315.1:c.1710A>G | ENSP00000513248.1:p.Thr570= | |
| ENST00000697316.1:n.1831A>G | ||
| ENST00000697317.1:n.1820A>G | ||
| ENST00000697318.1:n.1822A>G | ||
| ENST00000265433.8:c.1710A>G MANE Select | ENSP00000265433.4:p.Thr570= | |
| ENST00000265433.7:c.1710A>G | ENSP00000265433.3:p.Thr570= | |
| ENST00000396252.6:c.*1583A>G | ENSP00000379551.2:n.*1583A>G | |
| ENST00000409330.5:c.1464A>G | ENSP00000386924.1:p.Thr488= | |
| NM_001024688.2:c.1464A>G | NP_001019859.1:p.Thr488= | |
| NM_002485.4:c.1710A>G , LRG_158t1:c.1710A>G | NP_002476.2:p.Thr570= | |
| XM_011517044.1:c.1686A>G | XP_011515346.1:p.Thr562= | |
| XM_011517045.1:c.1464A>G | XP_011515347.1:p.Thr488= | |
| XR_928335.1:n.1849A>G | ||
| XM_017013460.1:c.831A>G | XP_016868949.1:p.Thr277= | |
| XM_017013462.2:c.831A>G | XP_016868951.1:p.Thr277= | |
| XM_024447163.1:c.1464A>G | XP_024302931.1:p.Thr488= | |
| XM_024447164.1:c.1464A>G | XP_024302932.1:p.Thr488= | |
| XM_024447165.1:c.831A>G | XP_024302933.1:p.Thr277= | |
| NM_002485.5:c.1710A>G MANE Select | NP_002476.2:p.Thr570= | |
| NM_001024688.3:c.1464A>G | NP_001019859.1:p.Thr488= |