Linked Data
dbSNP Id:
rs1231168192
gnomAD v2:
3-183855876-C-T
gnomAD v3:
3-184138088-C-T
gnomAD v4:
3-184138088-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184138088C>T , CM000665.2:g.184138088C>T | GRCh38 |
| NC_000003.11:g.183855876C>T , CM000665.1:g.183855876C>T | GRCh37 |
| NC_000003.10:g.185338570C>T | NCBI36 |
| NG_015826.1:g.8067C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.707+13C>T | ||
| ENST00000468748.7:n.667+13C>T | ||
| ENST00000484154.2:n.1305+13C>T | ||
| ENST00000491008.6:n.1432+13C>T | ||
| ENST00000492226.2:n.681+13C>T | ||
| ENST00000492773.6:c.416+13C>T | ||
| ENST00000647636.1:c.684+13C>T | ENSP00000497505.1:n.684+13C>T | |
| ENST00000647909.1:c.708+13C>T | ENSP00000498164.1:n.708+13C>T | |
| ENST00000648145.1:c.452+13C>T | ||
| ENST00000648189.1:c.434+13C>T | ||
| ENST00000648256.1:c.633+13C>T | ENSP00000497356.1:n.633+13C>T | |
| ENST00000648314.1:c.684+13C>T | ENSP00000496920.1:n.684+13C>T | |
| ENST00000648599.1:c.684+13C>T | ENSP00000497159.1:n.684+13C>T | |
| ENST00000648630.1:c.678+13C>T | ENSP00000497887.1:n.678+13C>T | |
| ENST00000648682.1:c.684+13C>T | ENSP00000498185.1:n.684+13C>T | |
| ENST00000648882.1:c.*510+13C>T | ENSP00000497603.1:n.*510+13C>T | |
| ENST00000648890.1:c.684+13C>T | ENSP00000497503.1:n.684+13C>T | |
| ENST00000648915.2:c.684+13C>T MANE Select | ENSP00000497160.1:n.684+13C>T | |
| ENST00000649545.1:c.418+13C>T | ||
| ENST00000649688.1:c.684+13C>T | ENSP00000497097.1:n.684+13C>T | |
| ENST00000649814.1:n.733+13C>T | ||
| ENST00000650270.1:c.551+13C>T | ||
| ENST00000273783.7:c.684+13C>T | ENSP00000273783.3:n.684+13C>T | |
| ENST00000432982.5:c.245+1413C>T | ||
| ENST00000444495.1:c.684+13C>T | ENSP00000409142.1:n.684+13C>T | |
| ENST00000468748.5:n.137+13C>T | ||
| ENST00000481054.5:n.685+13C>T | ||
| ENST00000491008.5:n.648+13C>T | ||
| ENST00000491144.5:n.1124+13C>T | ||
| NM_003907.2:c.684+13C>T | NP_003898.2:n.684+13C>T | |
| XR_924208.1:n.1635+13C>T | ||
| NM_003907.3:c.684+13C>T MANE Select | NP_003898.2:n.684+13C>T | |
| XM_011513266.3:c.-218+13C>T | XP_011511568.1:n.-218+13C>T | |
| XR_001740352.2:n.1047+13C>T | ||
| XR_001740353.2:n.1047+13C>T | ||
| XR_924208.2:n.1047+13C>T |