Linked Data
ClinVar Variation Id:
492132
dbSNP Id:
rs141443872
gnomAD v2:
8-90982684-C-G
gnomAD v4:
8-89970456-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89970456C>G , CM000670.2:g.89970456C>G | GRCh38 |
| NC_000008.10:g.90982684C>G , CM000670.1:g.90982684C>G | GRCh37 |
| NC_000008.9:g.91051860C>G | NCBI36 |
| NG_008860.1:g.19216G>C , LRG_158:g.19216G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.2106G>C | ||
| ENST00000517337.2:c.558G>C | ENSP00000429971.2:p.Thr186= | |
| ENST00000523444.2:c.558G>C | ENSP00000428252.2:p.Thr186= | |
| ENST00000697292.1:c.804G>C | ENSP00000513229.1:p.Thr268= | |
| ENST00000697293.1:c.804G>C | ENSP00000513230.1:p.Thr268= | |
| ENST00000697294.1:c.*415G>C | ENSP00000513231.1:n.*415G>C | |
| ENST00000697295.1:c.*113G>C | ENSP00000513232.1:n.*113G>C | |
| ENST00000697296.1:c.*472G>C | ENSP00000513233.1:n.*472G>C | |
| ENST00000697297.1:n.2589G>C | ||
| ENST00000697298.1:c.558G>C | ENSP00000513234.1:p.Thr186= | |
| ENST00000697299.1:c.558G>C | ENSP00000513235.1:p.Thr186= | |
| ENST00000697300.1:c.*408G>C | ENSP00000513236.1:n.*408G>C | |
| ENST00000697301.1:c.*325G>C | ENSP00000513237.1:n.*325G>C | |
| ENST00000697302.1:c.*325G>C | ENSP00000513238.1:n.*325G>C | |
| ENST00000697303.1:c.*408G>C | ENSP00000513239.1:n.*408G>C | |
| ENST00000697304.1:c.585-5949G>C | ENSP00000513240.1:n.585-5949G>C | |
| ENST00000697306.1:c.480+10278G>C | ENSP00000513241.1:n.480+10278G>C | |
| ENST00000697307.1:c.804G>C | ENSP00000513242.1:p.Thr268= | |
| ENST00000697308.1:c.804G>C | ENSP00000513243.1:p.Thr268= | |
| ENST00000697309.1:c.804G>C | ENSP00000513244.1:p.Thr268= | |
| ENST00000697310.1:c.804G>C | ENSP00000513245.1:p.Thr268= | |
| ENST00000697311.1:c.804G>C | ENSP00000513246.1:p.Thr268= | |
| ENST00000697312.1:c.*202G>C | ENSP00000513247.1:n.*202G>C | |
| ENST00000697313.1:n.2595G>C | ||
| ENST00000697314.1:n.2595G>C | ||
| ENST00000697315.1:c.804G>C | ENSP00000513248.1:p.Thr268= | |
| ENST00000697316.1:n.925G>C | ||
| ENST00000697317.1:n.914G>C | ||
| ENST00000697318.1:n.916G>C | ||
| ENST00000265433.8:c.804G>C MANE Select | ENSP00000265433.4:p.Thr268= | |
| ENST00000265433.7:c.804G>C | ENSP00000265433.3:p.Thr268= | |
| ENST00000396252.6:c.*677G>C | ENSP00000379551.2:n.*677G>C | |
| ENST00000409330.5:c.558G>C | ENSP00000386924.1:p.Thr186= | |
| NM_001024688.2:c.558G>C | NP_001019859.1:p.Thr186= | |
| NM_002485.4:c.804G>C , LRG_158t1:c.804G>C | NP_002476.2:p.Thr268= | |
| XM_011517044.1:c.780G>C | XP_011515346.1:p.Thr260= | |
| XM_011517045.1:c.558G>C | XP_011515347.1:p.Thr186= | |
| XM_011517046.1:c.804G>C | XP_011515348.1:p.Thr268= | |
| XR_928335.1:n.941G>C | ||
| XM_017013460.1:c.-76G>C | XP_016868949.1:n.-76G>C | |
| XM_017013462.2:c.-76G>C | XP_016868951.1:n.-76G>C | |
| XM_024447163.1:c.558G>C | XP_024302931.1:p.Thr186= | |
| XM_024447164.1:c.558G>C | XP_024302932.1:p.Thr186= | |
| XM_024447165.1:c.-76G>C | XP_024302933.1:n.-76G>C | |
| NM_002485.5:c.804G>C MANE Select | NP_002476.2:p.Thr268= | |
| NM_001024688.3:c.558G>C | NP_001019859.1:p.Thr186= |