Linked Data
ClinVar Variation Id:
182734
dbSNP Id:
rs535602436
ExAC:
8:90982685 G / A
gnomAD v2:
8-90982685-G-A
gnomAD v3:
8-89970457-G-A
gnomAD v4:
8-89970457-G-A
COSMIC:
COSM1102342
PubMed:
PMID:26315354
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89970457G>A , CM000670.2:g.89970457G>A | GRCh38 |
| NC_000008.10:g.90982685G>A , CM000670.1:g.90982685G>A | GRCh37 |
| NC_000008.9:g.91051861G>A | NCBI36 |
| NG_008860.1:g.19215C>T , LRG_158:g.19215C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.2105C>T | ||
| ENST00000517337.2:c.557C>T | ENSP00000429971.2:p.Thr186Met | |
| ENST00000523444.2:c.557C>T | ENSP00000428252.2:p.Thr186Met | |
| ENST00000697292.1:c.803C>T | ENSP00000513229.1:p.Thr268Met | |
| ENST00000697293.1:c.803C>T | ENSP00000513230.1:p.Thr268Met | |
| ENST00000697294.1:c.*414C>T | ENSP00000513231.1:n.*414C>T | |
| ENST00000697295.1:c.*112C>T | ENSP00000513232.1:n.*112C>T | |
| ENST00000697296.1:c.*471C>T | ENSP00000513233.1:n.*471C>T | |
| ENST00000697297.1:n.2588C>T | ||
| ENST00000697298.1:c.557C>T | ENSP00000513234.1:p.Thr186Met | |
| ENST00000697299.1:c.557C>T | ENSP00000513235.1:p.Thr186Met | |
| ENST00000697300.1:c.*407C>T | ENSP00000513236.1:n.*407C>T | |
| ENST00000697301.1:c.*324C>T | ENSP00000513237.1:n.*324C>T | |
| ENST00000697302.1:c.*324C>T | ENSP00000513238.1:n.*324C>T | |
| ENST00000697303.1:c.*407C>T | ENSP00000513239.1:n.*407C>T | |
| ENST00000697304.1:c.585-5950C>T | ENSP00000513240.1:n.585-5950C>T | |
| ENST00000697306.1:c.480+10277C>T | ENSP00000513241.1:n.480+10277C>T | |
| ENST00000697307.1:c.803C>T | ENSP00000513242.1:p.Thr268Met | |
| ENST00000697308.1:c.803C>T | ENSP00000513243.1:p.Thr268Met | |
| ENST00000697309.1:c.803C>T | ENSP00000513244.1:p.Thr268Met | |
| ENST00000697310.1:c.803C>T | ENSP00000513245.1:p.Thr268Met | |
| ENST00000697311.1:c.803C>T | ENSP00000513246.1:p.Thr268Met | |
| ENST00000697312.1:c.*201C>T | ENSP00000513247.1:n.*201C>T | |
| ENST00000697313.1:n.2594C>T | ||
| ENST00000697314.1:n.2594C>T | ||
| ENST00000697315.1:c.803C>T | ENSP00000513248.1:p.Thr268Met | |
| ENST00000697316.1:n.924C>T | ||
| ENST00000697317.1:n.913C>T | ||
| ENST00000697318.1:n.915C>T | ||
| ENST00000265433.8:c.803C>T MANE Select | ENSP00000265433.4:p.Thr268Met | |
| ENST00000265433.7:c.803C>T | ENSP00000265433.3:p.Thr268Met | |
| ENST00000396252.6:c.*676C>T | ENSP00000379551.2:n.*676C>T | |
| ENST00000409330.5:c.557C>T | ENSP00000386924.1:p.Thr186Met | |
| NM_001024688.2:c.557C>T | NP_001019859.1:p.Thr186Met | |
| NM_002485.4:c.803C>T , LRG_158t1:c.803C>T | NP_002476.2:p.Thr268Met | |
| XM_011517044.1:c.779C>T | XP_011515346.1:p.Thr260Met | |
| XM_011517045.1:c.557C>T | XP_011515347.1:p.Thr186Met | |
| XM_011517046.1:c.803C>T | XP_011515348.1:p.Thr268Met | |
| XR_928335.1:n.940C>T | ||
| XM_017013460.1:c.-77C>T | XP_016868949.1:n.-77C>T | |
| XM_017013462.2:c.-77C>T | XP_016868951.1:n.-77C>T | |
| XM_024447163.1:c.557C>T | XP_024302931.1:p.Thr186Met | |
| XM_024447164.1:c.557C>T | XP_024302932.1:p.Thr186Met | |
| XM_024447165.1:c.-77C>T | XP_024302933.1:n.-77C>T | |
| NM_002485.5:c.803C>T MANE Select | NP_002476.2:p.Thr268Met | |
| NM_001024688.3:c.557C>T | NP_001019859.1:p.Thr186Met |