Linked Data
ClinVar Variation Id:
402969
dbSNP Id:
rs2294100
ExAC:
8:42175303 A / T
gnomAD v2:
8-42175303-A-T
gnomAD v3:
8-42317785-A-T
gnomAD v4:
8-42317785-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42317785A>T , CM000670.2:g.42317785A>T | GRCh38 |
| NC_000008.10:g.42175303A>T , CM000670.1:g.42175303A>T | GRCh37 |
| NC_000008.9:g.42294460A>T | NCBI36 |
| NG_041793.1:g.51484A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416505.7:c.903+14A>T | ||
| ENST00000520810.6:c.1240+14A>T MANE Select | ENSP00000430684.1:n.1240+14A>T | |
| ENST00000520835.7:c.1048+14A>T | ENSP00000430868.2:n.1048+14A>T | |
| ENST00000629753.2:c.*1054+14A>T | ENSP00000486961.2:n.*1054+14A>T | |
| ENST00000648136.2:n.951+14A>T | ||
| ENST00000649612.3:c.1004+14A>T | ||
| ENST00000676525.1:c.842+14A>T | ENSP00000503997.1:n.842+14A>T | |
| ENST00000342222.6:c.*801+14A>T | ENSP00000339151.2:n.*801+14A>T | |
| ENST00000416505.5:c.1063+14A>T | ENSP00000404920.2:n.1063+14A>T | |
| ENST00000517502.5:n.115+14A>T | ||
| ENST00000517890.5:c.*998+14A>T | ENSP00000428799.1:n.*998+14A>T | |
| ENST00000517917.5:n.1126+14A>T | ||
| ENST00000518679.5:c.*521+14A>T | ENSP00000430557.1:n.*521+14A>T | |
| ENST00000520201.5:n.1244+14A>T | ||
| ENST00000520655.5:c.1240+14A>T | ENSP00000428922.1:n.1240+14A>T | |
| ENST00000520810.5:c.1240+14A>T | ENSP00000430684.1:n.1240+14A>T | |
| ENST00000520835.5:c.1234+14A>T | ENSP00000430868.1:n.1234+14A>T | |
| ENST00000521661.5:c.1240+14A>T | ENSP00000428186.1:n.1240+14A>T | |
| ENST00000522147.4:c.106-13422A>T | ENSP00000428892.1:n.106-13422A>T | |
| ENST00000523105.5:c.*998+14A>T | ENSP00000429239.1:n.*998+14A>T | |
| ENST00000523517.5:c.*59+14A>T | ENSP00000430114.1:n.*59+14A>T | |
| ENST00000629753.1:c.1240+14A>T | ENSP00000486961.1:n.1240+14A>T | |
| NM_001190720.2:c.1234+14A>T | NP_001177649.1:n.1234+14A>T | |
| NM_001242778.1:c.1063+14A>T | NP_001229707.1:n.1063+14A>T | |
| NM_001556.2:c.1240+14A>T | NP_001547.1:n.1240+14A>T | |
| NR_033818.1:n.1482+14A>T | ||
| NR_033819.1:n.1426+14A>T | ||
| NR_040009.1:n.1373+14A>T | ||
| XM_005273490.1:c.1240+14A>T | XP_005273547.1:n.1240+14A>T | |
| XM_005273491.3:c.1063+14A>T | XP_005273548.1:n.1063+14A>T | |
| XM_005273492.2:c.1240+14A>T | XP_005273549.1:n.1240+14A>T | |
| XM_005273493.2:c.925+14A>T | XP_005273550.1:n.925+14A>T | |
| XM_005273494.1:c.1240+14A>T | XP_005273551.1:n.1240+14A>T | |
| XM_005273495.1:c.610+14A>T | XP_005273552.1:n.610+14A>T | |
| XM_005273496.2:c.610+14A>T | XP_005273553.1:n.610+14A>T | |
| XM_005273498.2:c.610+14A>T | XP_005273555.1:n.610+14A>T | |
| XM_011544517.1:c.1240+14A>T | XP_011542819.1:n.1240+14A>T | |
| XM_011544518.1:c.1090+14A>T | XP_011542820.1:n.1090+14A>T | |
| XM_011544519.1:c.1063+14A>T | XP_011542821.1:n.1063+14A>T | |
| XM_011544520.1:c.985+14A>T | XP_011542822.1:n.985+14A>T | |
| XM_011544521.1:c.610+14A>T | XP_011542823.1:n.610+14A>T | |
| XM_011544522.1:c.403+14A>T | XP_011542824.1:n.403+14A>T | |
| XR_949402.1:n.1326+14A>T | ||
| NM_001556.3:c.1240+14A>T MANE Select | NP_001547.1:n.1240+14A>T | |
| XM_005273490.3:c.1240+14A>T | XP_005273547.1:n.1240+14A>T | |
| XM_005273491.5:c.1063+14A>T | XP_005273548.1:n.1063+14A>T | |
| XM_005273492.4:c.1240+14A>T | XP_005273549.1:n.1240+14A>T | |
| XM_005273493.4:c.925+14A>T | XP_005273550.1:n.925+14A>T | |
| XM_005273494.3:c.1240+14A>T | XP_005273551.1:n.1240+14A>T | |
| XM_005273495.2:c.610+14A>T | XP_005273552.1:n.610+14A>T | |
| XM_005273496.4:c.610+14A>T | XP_005273553.1:n.610+14A>T | |
| XM_005273498.4:c.610+14A>T | XP_005273555.1:n.610+14A>T | |
| XM_011544517.2:c.1240+14A>T | XP_011542819.1:n.1240+14A>T | |
| XM_011544518.2:c.1090+14A>T | XP_011542820.1:n.1090+14A>T | |
| XM_011544519.2:c.1063+14A>T | XP_011542821.1:n.1063+14A>T | |
| XM_011544520.2:c.985+14A>T | XP_011542822.1:n.985+14A>T | |
| XM_011544521.2:c.610+14A>T | XP_011542823.1:n.610+14A>T | |
| XM_011544522.2:c.403+14A>T | XP_011542824.1:n.403+14A>T | |
| XM_017013396.1:c.403+14A>T | XP_016868885.1:n.403+14A>T | |
| XR_001745530.2:n.1424+14A>T | ||
| XR_949402.3:n.1906+14A>T | ||
| NM_001242778.2:c.1063+14A>T | NP_001229707.1:n.1063+14A>T | |
| NR_033818.2:n.1482+14A>T | ||
| NR_033819.2:n.1426+14A>T | ||
| NR_040009.2:n.1373+14A>T | ||
| NM_001190720.3:c.1048+14A>T | NP_001177649.2:n.1048+14A>T |