Linked Data
ClinVar Variation Id:
134873
ClinVar RCV Id:
RCV000121613
RCV000129788
RCV000167890
RCV000588734
RCV002225383
RCV003389699
RCV003474728
dbSNP Id:
rs148205441
ExAC:
8:90965912 C / A
gnomAD v2:
8-90965912-C-A
gnomAD v3:
8-89953684-C-A
gnomAD v4:
8-89953684-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89953684C>A , CM000670.2:g.89953684C>A | GRCh38 |
| NC_000008.10:g.90965912C>A , CM000670.1:g.90965912C>A | GRCh37 |
| NC_000008.9:g.91035088C>A | NCBI36 |
| NG_008860.1:g.35988G>T , LRG_158:g.35988G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.2707G>T | ||
| ENST00000517337.2:c.1159G>T | ENSP00000429971.2:p.Asp387Tyr | |
| ENST00000523444.2:c.1159G>T | ENSP00000428252.2:p.Asp387Tyr | |
| ENST00000697292.1:c.1405G>T | ENSP00000513229.1:p.Asp469Tyr | |
| ENST00000697293.1:c.1405G>T | ENSP00000513230.1:p.Asp469Tyr | |
| ENST00000697294.1:c.*1016G>T | ENSP00000513231.1:n.*1016G>T | |
| ENST00000697295.1:c.*714G>T | ENSP00000513232.1:n.*714G>T | |
| ENST00000697296.1:c.*1073G>T | ENSP00000513233.1:n.*1073G>T | |
| ENST00000697297.1:n.3190G>T | ||
| ENST00000697298.1:c.1159G>T | ENSP00000513234.1:p.Asp387Tyr | |
| ENST00000697299.1:c.1159G>T | ENSP00000513235.1:p.Asp387Tyr | |
| ENST00000697300.1:c.*1009G>T | ENSP00000513236.1:n.*1009G>T | |
| ENST00000697301.1:c.*926G>T | ENSP00000513237.1:n.*926G>T | |
| ENST00000697302.1:c.*926G>T | ENSP00000513238.1:n.*926G>T | |
| ENST00000697303.1:c.*1009G>T | ENSP00000513239.1:n.*1009G>T | |
| ENST00000697304.1:c.1093G>T | ENSP00000513240.1:p.Asp365Tyr | |
| ENST00000697306.1:c.*405G>T | ENSP00000513241.1:n.*405G>T | |
| ENST00000697307.1:c.1405G>T | ENSP00000513242.1:p.Asp469Tyr | |
| ENST00000697308.1:c.1405G>T | ENSP00000513243.1:p.Asp469Tyr | |
| ENST00000697309.1:c.1405G>T | ENSP00000513244.1:p.Asp469Tyr | |
| ENST00000697310.1:c.1405G>T | ENSP00000513245.1:p.Asp469Tyr | |
| ENST00000697311.1:c.1405G>T | ENSP00000513246.1:p.Asp469Tyr | |
| ENST00000697312.1:c.*803G>T | ENSP00000513247.1:n.*803G>T | |
| ENST00000697313.1:n.2687+16680G>T | ||
| ENST00000697314.1:n.3196G>T | ||
| ENST00000697315.1:c.1405G>T | ENSP00000513248.1:p.Asp469Tyr | |
| ENST00000697316.1:n.1526G>T | ||
| ENST00000697317.1:n.1515G>T | ||
| ENST00000697318.1:n.1517G>T | ||
| ENST00000265433.8:c.1405G>T MANE Select | ENSP00000265433.4:p.Asp469Tyr | |
| ENST00000265433.7:c.1405G>T | ENSP00000265433.3:p.Asp469Tyr | |
| ENST00000396252.6:c.*1278G>T | ENSP00000379551.2:n.*1278G>T | |
| ENST00000409330.5:c.1159G>T | ENSP00000386924.1:p.Asp387Tyr | |
| NM_001024688.2:c.1159G>T | NP_001019859.1:p.Asp387Tyr | |
| NM_002485.4:c.1405G>T , LRG_158t1:c.1405G>T | NP_002476.2:p.Asp469Tyr | |
| XM_011517044.1:c.1381G>T | XP_011515346.1:p.Asp461Tyr | |
| XM_011517045.1:c.1159G>T | XP_011515347.1:p.Asp387Tyr | |
| XM_011517046.1:c.1406G>T | XP_011515348.1:p.Gly469Val | |
| XR_928335.1:n.1544G>T | ||
| XM_017013460.1:c.526G>T | XP_016868949.1:p.Asp176Tyr | |
| XM_017013462.2:c.526G>T | XP_016868951.1:p.Asp176Tyr | |
| XM_024447163.1:c.1159G>T | XP_024302931.1:p.Asp387Tyr | |
| XM_024447164.1:c.1159G>T | XP_024302932.1:p.Asp387Tyr | |
| XM_024447165.1:c.526G>T | XP_024302933.1:p.Asp176Tyr | |
| NM_002485.5:c.1405G>T MANE Select | NP_002476.2:p.Asp469Tyr | |
| NM_001024688.3:c.1159G>T | NP_001019859.1:p.Asp387Tyr |