Linked Data
ClinVar Variation Id:
543365
dbSNP Id:
rs369973804
ExAC:
11:9990098 A / G
gnomAD v2:
11-9990098-A-G
gnomAD v3:
11-9968551-A-G
gnomAD v4:
11-9968551-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9968551A>G , CM000673.2:g.9968551A>G | GRCh38 |
| NC_000011.9:g.9990098A>G , CM000673.1:g.9990098A>G | GRCh37 |
| NC_000011.8:g.9946674A>G | NCBI36 |
| NG_008074.1:g.330657T>C , LRG_267:g.330657T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420722.3:c.100-6T>C | ENSP00000410478.3:n.100-6T>C | |
| ENST00000526353.2:n.1546-6T>C | ||
| ENST00000530741.2:c.100-6T>C | ENSP00000432643.2:n.100-6T>C | |
| ENST00000533770.6:c.1396-6T>C | ENSP00000509247.1:n.1396-6T>C | |
| ENST00000675281.2:c.1396-6T>C | ENSP00000502491.1:n.1396-6T>C | |
| ENST00000676324.2:c.1396-6T>C | ENSP00000502578.1:n.1396-6T>C | |
| ENST00000676387.2:c.1282-6T>C | ENSP00000502779.1:n.1282-6T>C | |
| ENST00000687210.1:c.*18-6T>C | ENSP00000509480.1:n.*18-6T>C | |
| ENST00000688344.1:c.1003-6T>C | ENSP00000509987.1:n.1003-6T>C | |
| ENST00000688417.1:n.1546-6T>C | ||
| ENST00000689128.1:c.1396-6T>C | ENSP00000509587.1:n.1396-6T>C | |
| ENST00000689258.1:c.1258-6T>C | ENSP00000510475.1:n.1258-6T>C | |
| ENST00000689597.1:c.100-6T>C | ENSP00000510781.1:n.100-6T>C | |
| ENST00000689674.1:c.100-6T>C | ENSP00000510723.1:n.100-6T>C | |
| ENST00000689940.1:c.1396-6T>C | ENSP00000508452.1:n.1396-6T>C | |
| ENST00000690003.1:c.100-6T>C | ENSP00000508748.1:n.100-6T>C | |
| ENST00000690234.1:c.104-6T>C | ENSP00000510288.1:n.104-6T>C | |
| ENST00000692716.1:c.1267-6T>C | ENSP00000509545.1:n.1267-6T>C | |
| ENST00000693181.1:c.100-6T>C | ENSP00000510179.1:n.100-6T>C | |
| ENST00000256190.13:c.1396-6T>C MANE Select | ENSP00000256190.8:n.1396-6T>C | |
| ENST00000675281.1:c.1396-6T>C | ENSP00000502491.1:n.1396-6T>C | |
| ENST00000676324.1:c.1396-6T>C | ENSP00000502578.1:n.1396-6T>C | |
| ENST00000676387.1:c.1282-6T>C | ENSP00000502779.1:n.1282-6T>C | |
| ENST00000256190.12:c.1396-6T>C | ENSP00000256190.8:n.1396-6T>C | |
| ENST00000420722.2:c.215-6T>C | ||
| ENST00000533770.5:n.1311-6T>C | ||
| ENST00000617179.4:c.1255-6T>C | ENSP00000482806.1:n.1255-6T>C | |
| NM_030962.3:c.1396-6T>C , LRG_267t1:c.1396-6T>C | NP_112224.1:n.1396-6T>C | |
| XM_005253154.3:c.1396-6T>C | XP_005253211.1:n.1396-6T>C | |
| XM_005253155.3:c.1267-6T>C | XP_005253212.1:n.1267-6T>C | |
| XM_011520394.1:c.1282-6T>C | XP_011518696.1:n.1282-6T>C | |
| XM_011520395.1:c.1396-6T>C | XP_011518697.1:n.1396-6T>C | |
| XM_011520396.1:c.1396-6T>C | XP_011518698.1:n.1396-6T>C | |
| XM_005253154.5:c.1396-6T>C | XP_005253211.1:n.1396-6T>C | |
| XM_005253155.5:c.1267-6T>C | XP_005253212.1:n.1267-6T>C | |
| XM_011520394.3:c.1282-6T>C | XP_011518696.1:n.1282-6T>C | |
| XM_011520395.3:c.1396-6T>C | XP_011518697.1:n.1396-6T>C | |
| XM_011520396.3:c.1396-6T>C | XP_011518698.1:n.1396-6T>C | |
| XM_017018372.2:c.1258-6T>C | XP_016873861.1:n.1258-6T>C | |
| XM_017018373.2:c.1258-6T>C | XP_016873862.1:n.1258-6T>C | |
| XM_017018374.2:c.1267-6T>C | XP_016873863.1:n.1267-6T>C | |
| XM_017018375.2:c.1396-6T>C | XP_016873864.1:n.1396-6T>C | |
| XM_017018376.2:c.1396-6T>C | XP_016873865.1:n.1396-6T>C | |
| XM_017018377.2:c.1396-6T>C | XP_016873866.1:n.1396-6T>C | |
| XR_001747994.2:n.1534-6T>C | ||
| NM_001386339.1:c.1396-6T>C | NP_001373268.1:n.1396-6T>C | |
| NM_001386342.1:c.1267-6T>C | NP_001373271.1:n.1267-6T>C | |
| NM_030962.4:c.1396-6T>C MANE Select | NP_112224.1:n.1396-6T>C |