Linked Data
ClinVar Variation Id:
134875
dbSNP Id:
rs587778546
ExAC:
8:90990512 G / T
gnomAD v2:
8-90990512-G-T
gnomAD v3:
8-89978284-G-T
gnomAD v4:
8-89978284-G-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89978284G>T , CM000670.2:g.89978284G>T | GRCh38 |
| NC_000008.10:g.90990512G>T , CM000670.1:g.90990512G>T | GRCh37 |
| NC_000008.9:g.91059688G>T | NCBI36 |
| NG_008860.1:g.11388C>A , LRG_158:g.11388C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494804.2:n.1822C>A | ||
| ENST00000517337.2:c.274C>A | ENSP00000429971.2:p.Pro92Thr | |
| ENST00000523444.2:c.274C>A | ENSP00000428252.2:p.Pro92Thr | |
| ENST00000697292.1:c.520C>A | ENSP00000513229.1:p.Pro174Thr | |
| ENST00000697293.1:c.520C>A | ENSP00000513230.1:p.Pro174Thr | |
| ENST00000697294.1:c.*131C>A | ENSP00000513231.1:n.*131C>A | |
| ENST00000697295.1:c.37+6241C>A | ENSP00000513232.1:n.37+6241C>A | |
| ENST00000697296.1:c.*188C>A | ENSP00000513233.1:n.*188C>A | |
| ENST00000697297.1:n.2305C>A | ||
| ENST00000697298.1:c.274C>A | ENSP00000513234.1:p.Pro92Thr | |
| ENST00000697299.1:c.274C>A | ENSP00000513235.1:p.Pro92Thr | |
| ENST00000697300.1:c.*124C>A | ENSP00000513236.1:n.*124C>A | |
| ENST00000697301.1:c.*41C>A | ENSP00000513237.1:n.*41C>A | |
| ENST00000697302.1:c.*41C>A | ENSP00000513238.1:n.*41C>A | |
| ENST00000697303.1:c.*124C>A | ENSP00000513239.1:n.*124C>A | |
| ENST00000697304.1:c.520C>A | ENSP00000513240.1:p.Pro174Thr | |
| ENST00000697306.1:c.480+2450C>A | ENSP00000513241.1:n.480+2450C>A | |
| ENST00000697307.1:c.520C>A | ENSP00000513242.1:p.Pro174Thr | |
| ENST00000697308.1:c.520C>A | ENSP00000513243.1:p.Pro174Thr | |
| ENST00000697309.1:c.520C>A | ENSP00000513244.1:p.Pro174Thr | |
| ENST00000697310.1:c.520C>A | ENSP00000513245.1:p.Pro174Thr | |
| ENST00000697311.1:c.520C>A | ENSP00000513246.1:p.Pro174Thr | |
| ENST00000697312.1:c.480+2450C>A | ENSP00000513247.1:n.480+2450C>A | |
| ENST00000697313.1:n.2311C>A | ||
| ENST00000697314.1:n.2311C>A | ||
| ENST00000697315.1:c.520C>A | ENSP00000513248.1:p.Pro174Thr | |
| ENST00000697316.1:n.641C>A | ||
| ENST00000697317.1:n.630C>A | ||
| ENST00000697318.1:n.632C>A | ||
| ENST00000265433.8:c.520C>A MANE Select | ENSP00000265433.4:p.Pro174Thr | |
| ENST00000265433.7:c.520C>A | ENSP00000265433.3:p.Pro174Thr | |
| ENST00000396252.6:c.*393C>A | ENSP00000379551.2:n.*393C>A | |
| ENST00000409330.5:c.274C>A | ENSP00000386924.1:p.Pro92Thr | |
| ENST00000517337.1:c.274C>A | ENSP00000429971.1:p.Pro92Thr | |
| ENST00000517772.5:c.274C>A | ENSP00000428717.1:p.Pro92Thr | |
| ENST00000519426.5:c.320+3091C>A | ENSP00000430983.1:n.320+3091C>A | |
| ENST00000523444.1:c.*352C>A | ENSP00000428252.1:n.*352C>A | |
| NM_001024688.2:c.274C>A | NP_001019859.1:p.Pro92Thr | |
| NM_002485.4:c.520C>A , LRG_158t1:c.520C>A | NP_002476.2:p.Pro174Thr | |
| XM_011517044.1:c.496C>A | XP_011515346.1:p.Pro166Thr | |
| XM_011517045.1:c.274C>A | XP_011515347.1:p.Pro92Thr | |
| XM_011517046.1:c.520C>A | XP_011515348.1:p.Pro174Thr | |
| XR_928335.1:n.657C>A | ||
| XM_017013460.1:c.-360C>A | XP_016868949.1:n.-360C>A | |
| XM_017013462.2:c.-296+2450C>A | XP_016868951.1:n.-296+2450C>A | |
| XM_024447163.1:c.274C>A | XP_024302931.1:p.Pro92Thr | |
| XM_024447164.1:c.274C>A | XP_024302932.1:p.Pro92Thr | |
| XM_024447165.1:c.-360C>A | XP_024302933.1:n.-360C>A | |
| NM_002485.5:c.520C>A MANE Select | NP_002476.2:p.Pro174Thr | |
| NM_001024688.3:c.274C>A | NP_001019859.1:p.Pro92Thr |