Linked Data
dbSNP Id:
rs747787829
ExAC:
3:183855915 G / A
gnomAD v2:
3-183855915-G-A
gnomAD v4:
3-184138127-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184138127G>A , CM000665.2:g.184138127G>A | GRCh38 |
| NC_000003.11:g.183855915G>A , CM000665.1:g.183855915G>A | GRCh37 |
| NC_000003.10:g.185338609G>A | NCBI36 |
| NG_015826.1:g.8106G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.708-39G>A | ||
| ENST00000468748.7:n.668-39G>A | ||
| ENST00000484154.2:n.1306-39G>A | ||
| ENST00000491008.6:n.1433-39G>A | ||
| ENST00000492226.2:n.682-39G>A | ||
| ENST00000492773.6:c.417-17G>A | ||
| ENST00000647636.1:c.685-39G>A | ENSP00000497505.1:n.685-39G>A | |
| ENST00000647909.1:c.709-39G>A | ENSP00000498164.1:n.709-39G>A | |
| ENST00000648145.1:c.453-39G>A | ||
| ENST00000648189.1:c.435-39G>A | ||
| ENST00000648256.1:c.634-39G>A | ENSP00000497356.1:n.634-39G>A | |
| ENST00000648314.1:c.685-39G>A | ENSP00000496920.1:n.685-39G>A | |
| ENST00000648599.1:c.685-39G>A | ENSP00000497159.1:n.685-39G>A | |
| ENST00000648630.1:c.679-39G>A | ENSP00000497887.1:n.679-39G>A | |
| ENST00000648682.1:c.685-39G>A | ENSP00000498185.1:n.685-39G>A | |
| ENST00000648882.1:c.*511-39G>A | ENSP00000497603.1:n.*511-39G>A | |
| ENST00000648890.1:c.685-39G>A | ENSP00000497503.1:n.685-39G>A | |
| ENST00000648915.2:c.685-39G>A MANE Select | ENSP00000497160.1:n.685-39G>A | |
| ENST00000649545.1:c.419-39G>A | ||
| ENST00000649688.1:c.685-39G>A | ENSP00000497097.1:n.685-39G>A | |
| ENST00000649814.1:n.734-39G>A | ||
| ENST00000650270.1:c.552-39G>A | ||
| ENST00000273783.7:c.685-39G>A | ENSP00000273783.3:n.685-39G>A | |
| ENST00000432982.5:c.245+1452G>A | ||
| ENST00000444495.1:c.685-39G>A | ENSP00000409142.1:n.685-39G>A | |
| ENST00000468748.5:n.138-39G>A | ||
| ENST00000481054.5:n.686-39G>A | ||
| ENST00000491008.5:n.649-39G>A | ||
| ENST00000491144.5:n.1125-39G>A | ||
| NM_003907.2:c.685-39G>A | NP_003898.2:n.685-39G>A | |
| XR_924208.1:n.1636-39G>A | ||
| NM_003907.3:c.685-39G>A MANE Select | NP_003898.2:n.685-39G>A | |
| XM_011513266.3:c.-217-39G>A | XP_011511568.1:n.-217-39G>A | |
| XR_001740352.2:n.1048-39G>A | ||
| XR_001740353.2:n.1048-39G>A | ||
| XR_924208.2:n.1048-39G>A |