Linked Data
ClinVar Variation Id:
93016
dbSNP Id:
rs200168705
ExAC:
8:145008904 A / G
gnomAD v2:
8-145008904-A-G
gnomAD v3:
8-143934736-A-G
gnomAD v4:
8-143934736-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143934736A>G , CM000670.2:g.143934736A>G | GRCh38 |
| NC_000008.10:g.145008904A>G , CM000670.1:g.145008904A>G | GRCh37 |
| NC_000008.9:g.145080892A>G | NCBI36 |
| NG_012492.1:g.47010T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.1078-6T>C | ENSP00000437303.2:n.1078-6T>C | |
| ENST00000685198.1:c.997-6T>C | ENSP00000510528.1:n.997-6T>C | |
| ENST00000687971.1:c.664-6T>C | ENSP00000510788.1:n.664-6T>C | |
| ENST00000693060.1:c.877-6T>C | ENSP00000510329.1:n.877-6T>C | |
| ENST00000345136.8:c.946-6T>C MANE Select | ENSP00000344848.3:n.946-6T>C | |
| ENST00000527303.2:c.1027-6T>C | ENSP00000433982.2:n.1027-6T>C | |
| ENST00000322810.8:c.1357-6T>C | ENSP00000323856.4:n.1357-6T>C | |
| ENST00000345136.7:c.946-6T>C | ENSP00000344848.3:n.946-6T>C | |
| ENST00000354589.7:c.946-6T>C | ENSP00000346602.3:n.946-6T>C | |
| ENST00000354958.6:c.880-6T>C | ENSP00000347044.2:n.880-6T>C | |
| ENST00000356346.7:c.904-6T>C MANE Plus Clinical | ENSP00000348702.3:n.904-6T>C | |
| ENST00000357649.6:c.958-6T>C | ENSP00000350277.2:n.958-6T>C | |
| ENST00000398774.6:c.850-6T>C | ENSP00000381756.2:n.850-6T>C | |
| ENST00000436759.6:c.1027-6T>C | ENSP00000388180.2:n.1027-6T>C | |
| ENST00000527096.5:c.1015-6T>C | ENSP00000434583.1:n.1015-6T>C | |
| ENST00000528025.5:c.1078-6T>C | ENSP00000437303.1:n.1078-6T>C | |
| NM_000445.4:c.1027-6T>C | NP_000436.2:n.1027-6T>C | |
| NM_201378.3:c.904-6T>C | NP_958780.1:n.904-6T>C | |
| NM_201379.2:c.880-6T>C | NP_958781.1:n.880-6T>C | |
| NM_201380.3:c.1357-6T>C | NP_958782.1:n.1357-6T>C | |
| NM_201381.2:c.850-6T>C | NP_958783.1:n.850-6T>C | |
| NM_201382.3:c.946-6T>C | NP_958784.1:n.946-6T>C | |
| NM_201383.2:c.958-6T>C | NP_958785.1:n.958-6T>C | |
| NM_201384.2:c.946-6T>C | NP_958786.1:n.946-6T>C | |
| XM_005250976.2:c.1372-6T>C | XP_005251033.1:n.1372-6T>C | |
| XM_005250978.2:c.973-6T>C | XP_005251035.1:n.973-6T>C | |
| XM_005250979.3:c.961-6T>C | XP_005251036.1:n.961-6T>C | |
| XM_005250980.3:c.961-6T>C | XP_005251037.1:n.961-6T>C | |
| XM_005250981.2:c.919-6T>C | XP_005251038.1:n.919-6T>C | |
| XM_005250982.2:c.895-6T>C | XP_005251039.1:n.895-6T>C | |
| XM_005250983.2:c.877-6T>C | XP_005251040.1:n.877-6T>C | |
| XM_005250984.3:c.865-6T>C | XP_005251041.1:n.865-6T>C | |
| XM_006716588.2:c.1042-6T>C | XP_006716651.1:n.1042-6T>C | |
| XM_006716589.2:c.892-6T>C | XP_006716652.1:n.892-6T>C | |
| XM_006716590.2:c.892-6T>C | XP_006716653.1:n.892-6T>C | |
| XM_011517130.1:c.961-6T>C | XP_011515432.1:n.961-6T>C | |
| XM_011517131.1:c.877-6T>C | XP_011515433.1:n.877-6T>C | |
| XM_011517132.1:c.973-6T>C | XP_011515434.1:n.973-6T>C | |
| XM_005250976.4:c.1372-6T>C | XP_005251033.1:n.1372-6T>C | |
| XM_005250978.3:c.973-6T>C | XP_005251035.1:n.973-6T>C | |
| XM_005250979.4:c.961-6T>C | XP_005251036.1:n.961-6T>C | |
| XM_005250980.4:c.961-6T>C | XP_005251037.1:n.961-6T>C | |
| XM_005250981.3:c.919-6T>C | XP_005251038.1:n.919-6T>C | |
| XM_005250982.4:c.895-6T>C | XP_005251039.1:n.895-6T>C | |
| XM_005250984.5:c.865-6T>C | XP_005251041.1:n.865-6T>C | |
| XM_006716588.3:c.1042-6T>C | XP_006716651.1:n.1042-6T>C | |
| XM_006716590.3:c.892-6T>C | XP_006716653.1:n.892-6T>C | |
| XM_011517130.2:c.961-6T>C | XP_011515432.1:n.961-6T>C | |
| XM_011517131.2:c.877-6T>C | XP_011515433.1:n.877-6T>C | |
| XM_011517132.2:c.973-6T>C | XP_011515434.1:n.973-6T>C | |
| NM_000445.5:c.1027-6T>C | NP_000436.2:n.1027-6T>C | |
| NM_201378.4:c.904-6T>C MANE Plus Clinical | NP_958780.1:n.904-6T>C | |
| NM_201379.3:c.880-6T>C | NP_958781.1:n.880-6T>C | |
| NM_201380.4:c.1357-6T>C | NP_958782.1:n.1357-6T>C | |
| NM_201381.3:c.850-6T>C | NP_958783.1:n.850-6T>C | |
| NM_201382.4:c.946-6T>C | NP_958784.1:n.946-6T>C | |
| NM_201383.3:c.958-6T>C | NP_958785.1:n.958-6T>C | |
| NM_201384.3:c.946-6T>C MANE Select | NP_958786.1:n.946-6T>C |