Linked Data
dbSNP Id:
rs10500715
gnomAD v2:
11-9973062-T-G
gnomAD v3:
11-9951515-T-G
gnomAD v4:
11-9951515-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9951515T>G , CM000673.2:g.9951515T>G | GRCh38 |
| NC_000011.9:g.9973062T>G , CM000673.1:g.9973062T>G | GRCh37 |
| NC_000011.8:g.9929638T>G | NCBI36 |
| NG_008074.1:g.347693A>C , LRG_267:g.347693A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000420722.3:c.564+10442A>C | ENSP00000410478.3:n.564+10442A>C | |
| ENST00000530741.2:c.564+10442A>C | ENSP00000432643.2:n.564+10442A>C | |
| ENST00000533770.6:c.1860+10442A>C | ENSP00000509247.1:n.1860+10442A>C | |
| ENST00000675281.2:c.1860+10442A>C | ENSP00000502491.1:n.1860+10442A>C | |
| ENST00000676324.2:c.1860+10442A>C | ENSP00000502578.1:n.1860+10442A>C | |
| ENST00000676387.2:c.1746+10442A>C | ENSP00000502779.1:n.1746+10442A>C | |
| ENST00000687210.1:c.*482+10442A>C | ENSP00000509480.1:n.*482+10442A>C | |
| ENST00000688344.1:c.1467+10442A>C | ENSP00000509987.1:n.1467+10442A>C | |
| ENST00000688417.1:n.2010+10442A>C | ||
| ENST00000689128.1:c.1860+10442A>C | ENSP00000509587.1:n.1860+10442A>C | |
| ENST00000689258.1:c.1722+10442A>C | ENSP00000510475.1:n.1722+10442A>C | |
| ENST00000689597.1:c.564+10442A>C | ENSP00000510781.1:n.564+10442A>C | |
| ENST00000689674.1:c.564+10442A>C | ENSP00000510723.1:n.564+10442A>C | |
| ENST00000689940.1:c.1860+10442A>C | ENSP00000508452.1:n.1860+10442A>C | |
| ENST00000690003.1:c.564+10442A>C | ENSP00000508748.1:n.564+10442A>C | |
| ENST00000692716.1:c.1731+10442A>C | ENSP00000509545.1:n.1731+10442A>C | |
| ENST00000693181.1:c.564+10442A>C | ENSP00000510179.1:n.564+10442A>C | |
| ENST00000256190.13:c.1860+10442A>C MANE Select | ENSP00000256190.8:n.1860+10442A>C | |
| ENST00000675281.1:c.1860+10442A>C | ENSP00000502491.1:n.1860+10442A>C | |
| ENST00000676324.1:c.1860+10442A>C | ENSP00000502578.1:n.1860+10442A>C | |
| ENST00000676387.1:c.1746+10442A>C | ENSP00000502779.1:n.1746+10442A>C | |
| ENST00000256190.12:c.1860+10442A>C | ENSP00000256190.8:n.1860+10442A>C | |
| ENST00000420722.2:c.679+10442A>C | ||
| ENST00000533770.5:n.1775+10442A>C | ||
| ENST00000617179.4:c.1719+10442A>C | ENSP00000482806.1:n.1719+10442A>C | |
| NM_030962.3:c.1860+10442A>C , LRG_267t1:c.1860+10442A>C | NP_112224.1:n.1860+10442A>C | |
| XM_005253154.3:c.1860+10442A>C | XP_005253211.1:n.1860+10442A>C | |
| XM_005253155.3:c.1731+10442A>C | XP_005253212.1:n.1731+10442A>C | |
| XM_011520394.1:c.1746+10442A>C | XP_011518696.1:n.1746+10442A>C | |
| XM_011520395.1:c.1860+10442A>C | XP_011518697.1:n.1860+10442A>C | |
| XM_011520396.1:c.1860+10442A>C | XP_011518698.1:n.1860+10442A>C | |
| XM_005253154.5:c.1860+10442A>C | XP_005253211.1:n.1860+10442A>C | |
| XM_005253155.5:c.1731+10442A>C | XP_005253212.1:n.1731+10442A>C | |
| XM_011520394.3:c.1746+10442A>C | XP_011518696.1:n.1746+10442A>C | |
| XM_011520395.3:c.1860+10442A>C | XP_011518697.1:n.1860+10442A>C | |
| XM_011520396.3:c.1860+10442A>C | XP_011518698.1:n.1860+10442A>C | |
| XM_017018372.2:c.1722+10442A>C | XP_016873861.1:n.1722+10442A>C | |
| XM_017018373.2:c.1722+10442A>C | XP_016873862.1:n.1722+10442A>C | |
| XM_017018374.2:c.1731+10442A>C | XP_016873863.1:n.1731+10442A>C | |
| XM_017018375.2:c.1860+10442A>C | XP_016873864.1:n.1860+10442A>C | |
| XM_017018376.2:c.1860+10442A>C | XP_016873865.1:n.1860+10442A>C | |
| XM_017018377.2:c.1860+10442A>C | XP_016873866.1:n.1860+10442A>C | |
| XR_001747994.2:n.1998+10442A>C | ||
| NM_001386339.1:c.1860+10442A>C | NP_001373268.1:n.1860+10442A>C | |
| NM_001386342.1:c.1731+10442A>C | NP_001373271.1:n.1731+10442A>C | |
| NM_030962.4:c.1860+10442A>C MANE Select | NP_112224.1:n.1860+10442A>C |