Linked Data
ClinVar Variation Id:
1970036
ClinVar RCV Id:
RCV002730336
dbSNP Id:
rs765690715
ExAC:
3:183855870 G / A
gnomAD v2:
3-183855870-G-A
gnomAD v4:
3-184138082-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184138082G>A , CM000665.2:g.184138082G>A | GRCh38 |
| NC_000003.11:g.183855870G>A , CM000665.1:g.183855870G>A | GRCh37 |
| NC_000003.10:g.185338564G>A | NCBI36 |
| NG_015826.1:g.8061G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.707+7G>A | ||
| ENST00000468748.7:n.667+7G>A | ||
| ENST00000484154.2:n.1305+7G>A | ||
| ENST00000491008.6:n.1432+7G>A | ||
| ENST00000492226.2:n.681+7G>A | ||
| ENST00000492773.6:c.416+7G>A | ||
| ENST00000647636.1:c.684+7G>A | ENSP00000497505.1:n.684+7G>A | |
| ENST00000647909.1:c.708+7G>A | ENSP00000498164.1:n.708+7G>A | |
| ENST00000648145.1:c.452+7G>A | ||
| ENST00000648189.1:c.434+7G>A | ||
| ENST00000648256.1:c.633+7G>A | ENSP00000497356.1:n.633+7G>A | |
| ENST00000648314.1:c.684+7G>A | ENSP00000496920.1:n.684+7G>A | |
| ENST00000648599.1:c.684+7G>A | ENSP00000497159.1:n.684+7G>A | |
| ENST00000648630.1:c.678+7G>A | ENSP00000497887.1:n.678+7G>A | |
| ENST00000648682.1:c.684+7G>A | ENSP00000498185.1:n.684+7G>A | |
| ENST00000648882.1:c.*510+7G>A | ENSP00000497603.1:n.*510+7G>A | |
| ENST00000648890.1:c.684+7G>A | ENSP00000497503.1:n.684+7G>A | |
| ENST00000648915.2:c.684+7G>A MANE Select | ENSP00000497160.1:n.684+7G>A | |
| ENST00000649545.1:c.418+7G>A | ||
| ENST00000649688.1:c.684+7G>A | ENSP00000497097.1:n.684+7G>A | |
| ENST00000649814.1:n.733+7G>A | ||
| ENST00000650270.1:c.551+7G>A | ||
| ENST00000273783.7:c.684+7G>A | ENSP00000273783.3:n.684+7G>A | |
| ENST00000432982.5:c.245+1407G>A | ||
| ENST00000444495.1:c.684+7G>A | ENSP00000409142.1:n.684+7G>A | |
| ENST00000468748.5:n.137+7G>A | ||
| ENST00000481054.5:n.685+7G>A | ||
| ENST00000491008.5:n.648+7G>A | ||
| ENST00000491144.5:n.1124+7G>A | ||
| NM_003907.2:c.684+7G>A | NP_003898.2:n.684+7G>A | |
| XR_924208.1:n.1635+7G>A | ||
| NM_003907.3:c.684+7G>A MANE Select | NP_003898.2:n.684+7G>A | |
| XM_011513266.3:c.-218+7G>A | XP_011511568.1:n.-218+7G>A | |
| XR_001740352.2:n.1047+7G>A | ||
| XR_001740353.2:n.1047+7G>A | ||
| XR_924208.2:n.1047+7G>A |