Linked Data
ClinVar Variation Id:
420767
dbSNP Id:
rs561077201
ExAC:
8:90965936 A / C
gnomAD v2:
8-90965936-A-C
gnomAD v3:
8-89953708-A-C
gnomAD v4:
8-89953708-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89953708A>C , CM000670.2:g.89953708A>C | GRCh38 |
| NC_000008.10:g.90965936A>C , CM000670.1:g.90965936A>C | GRCh37 |
| NC_000008.9:g.91035112A>C | NCBI36 |
| NG_008860.1:g.35964T>G , LRG_158:g.35964T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.2700-17T>G | ||
| ENST00000517337.2:c.1152-17T>G | ENSP00000429971.2:n.1152-17T>G | |
| ENST00000523444.2:c.1152-17T>G | ENSP00000428252.2:n.1152-17T>G | |
| ENST00000697292.1:c.1398-17T>G | ENSP00000513229.1:n.1398-17T>G | |
| ENST00000697293.1:c.1398-17T>G | ENSP00000513230.1:n.1398-17T>G | |
| ENST00000697294.1:c.*1009-17T>G | ENSP00000513231.1:n.*1009-17T>G | |
| ENST00000697295.1:c.*707-17T>G | ENSP00000513232.1:n.*707-17T>G | |
| ENST00000697296.1:c.*1066-17T>G | ENSP00000513233.1:n.*1066-17T>G | |
| ENST00000697297.1:n.3183-17T>G | ||
| ENST00000697298.1:c.1152-17T>G | ENSP00000513234.1:n.1152-17T>G | |
| ENST00000697299.1:c.1152-17T>G | ENSP00000513235.1:n.1152-17T>G | |
| ENST00000697300.1:c.*1002-17T>G | ENSP00000513236.1:n.*1002-17T>G | |
| ENST00000697301.1:c.*919-17T>G | ENSP00000513237.1:n.*919-17T>G | |
| ENST00000697302.1:c.*919-17T>G | ENSP00000513238.1:n.*919-17T>G | |
| ENST00000697303.1:c.*1002-17T>G | ENSP00000513239.1:n.*1002-17T>G | |
| ENST00000697304.1:c.1086-17T>G | ENSP00000513240.1:n.1086-17T>G | |
| ENST00000697306.1:c.*398-17T>G | ENSP00000513241.1:n.*398-17T>G | |
| ENST00000697307.1:c.1398-17T>G | ENSP00000513242.1:n.1398-17T>G | |
| ENST00000697308.1:c.1398-17T>G | ENSP00000513243.1:n.1398-17T>G | |
| ENST00000697309.1:c.1398-17T>G | ENSP00000513244.1:n.1398-17T>G | |
| ENST00000697310.1:c.1398-17T>G | ENSP00000513245.1:n.1398-17T>G | |
| ENST00000697311.1:c.1398-17T>G | ENSP00000513246.1:n.1398-17T>G | |
| ENST00000697312.1:c.*796-17T>G | ENSP00000513247.1:n.*796-17T>G | |
| ENST00000697313.1:n.2687+16656T>G | ||
| ENST00000697314.1:n.3189-17T>G | ||
| ENST00000697315.1:c.1398-17T>G | ENSP00000513248.1:n.1398-17T>G | |
| ENST00000697316.1:n.1519-17T>G | ||
| ENST00000697317.1:n.1508-17T>G | ||
| ENST00000697318.1:n.1510-17T>G | ||
| ENST00000265433.8:c.1398-17T>G MANE Select | ENSP00000265433.4:n.1398-17T>G | |
| ENST00000265433.7:c.1398-17T>G | ENSP00000265433.3:n.1398-17T>G | |
| ENST00000396252.6:c.*1271-17T>G | ENSP00000379551.2:n.*1271-17T>G | |
| ENST00000409330.5:c.1152-17T>G | ENSP00000386924.1:n.1152-17T>G | |
| NM_001024688.2:c.1152-17T>G | NP_001019859.1:n.1152-17T>G | |
| NM_002485.4:c.1398-17T>G , LRG_158t1:c.1398-17T>G | NP_002476.2:n.1398-17T>G | |
| XM_011517044.1:c.1374-17T>G | XP_011515346.1:n.1374-17T>G | |
| XM_011517045.1:c.1152-17T>G | XP_011515347.1:n.1152-17T>G | |
| XM_011517046.1:c.1396-14T>G | XP_011515348.1:n.1396-14T>G | |
| XR_928335.1:n.1534-14T>G | ||
| XM_017013460.1:c.519-17T>G | XP_016868949.1:n.519-17T>G | |
| XM_017013462.2:c.519-17T>G | XP_016868951.1:n.519-17T>G | |
| XM_024447163.1:c.1152-17T>G | XP_024302931.1:n.1152-17T>G | |
| XM_024447164.1:c.1152-17T>G | XP_024302932.1:n.1152-17T>G | |
| XM_024447165.1:c.519-17T>G | XP_024302933.1:n.519-17T>G | |
| NM_002485.5:c.1398-17T>G MANE Select | NP_002476.2:n.1398-17T>G | |
| NM_001024688.3:c.1152-17T>G | NP_001019859.1:n.1152-17T>G |