Linked Data
dbSNP Id:
rs756837355
ExAC:
3:183857963 A / G
gnomAD v2:
3-183857963-A-G
gnomAD v4:
3-184140175-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184140175A>G , CM000665.2:g.184140175A>G | GRCh38 |
| NC_000003.11:g.183857963A>G , CM000665.1:g.183857963A>G | GRCh37 |
| NC_000003.10:g.185340657A>G | NCBI36 |
| NG_015826.1:g.10154A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.866+18A>G | ||
| ENST00000468748.7:n.844A>G | ||
| ENST00000484154.2:n.1387-1750A>G | ||
| ENST00000491008.6:n.1591+18A>G | ||
| ENST00000492226.2:n.858A>G | ||
| ENST00000492773.6:c.597+18A>G | ||
| ENST00000647636.1:c.843+18A>G | ENSP00000497505.1:n.843+18A>G | |
| ENST00000647909.1:c.867+18A>G | ENSP00000498164.1:n.867+18A>G | |
| ENST00000648145.1:c.611+18A>G | ||
| ENST00000648189.1:c.611A>G | ||
| ENST00000648256.1:c.815+18A>G | ENSP00000497356.1:n.815+18A>G | |
| ENST00000648314.1:c.861A>G | ENSP00000496920.1:p.Gln287= | |
| ENST00000648599.1:c.*126+18A>G | ENSP00000497159.1:n.*126+18A>G | |
| ENST00000648630.1:c.837+18A>G | ENSP00000497887.1:n.837+18A>G | |
| ENST00000648682.1:c.843+18A>G | ENSP00000498185.1:n.843+18A>G | |
| ENST00000648882.1:c.*669+18A>G | ENSP00000497603.1:n.*669+18A>G | |
| ENST00000648890.1:c.843+18A>G | ENSP00000497503.1:n.843+18A>G | |
| ENST00000648915.2:c.843+18A>G MANE Select | ENSP00000497160.1:n.843+18A>G | |
| ENST00000649545.1:c.577+18A>G | ||
| ENST00000649688.1:c.*126+18A>G | ENSP00000497097.1:n.*126+18A>G | |
| ENST00000649814.1:n.892+18A>G | ||
| ENST00000650270.1:c.710+18A>G | ||
| ENST00000273783.7:c.843+18A>G | ENSP00000273783.3:n.843+18A>G | |
| ENST00000432982.5:c.246-2062A>G | ||
| ENST00000444495.1:c.843+18A>G | ENSP00000409142.1:n.843+18A>G | |
| ENST00000468748.5:n.314A>G | ||
| ENST00000479833.1:n.159+18A>G | ||
| ENST00000481054.5:n.937+18A>G | ||
| ENST00000491144.5:n.1301A>G | ||
| ENST00000493740.1:n.27A>G | ||
| NM_003907.2:c.843+18A>G | NP_003898.2:n.843+18A>G | |
| XM_011513265.1:c.93+18A>G | XP_011511567.1:n.93+18A>G | |
| XM_011513266.1:c.-41A>G | XP_011511568.1:n.-41A>G | |
| XR_924208.1:n.1794+18A>G | ||
| NM_003907.3:c.843+18A>G MANE Select | NP_003898.2:n.843+18A>G | |
| XM_011513266.3:c.-41A>G | XP_011511568.1:n.-41A>G | |
| XR_001740352.2:n.1206+18A>G | ||
| XR_001740353.2:n.1206+18A>G | ||
| XR_924208.2:n.1206+18A>G |