Linked Data
ClinVar Variation Id:
129938
ClinVar RCV Id:
RCV000117959
RCV001520617
RCV001534504
RCV001789158
RCV001789159
RCV001789155
RCV001789156
RCV001789157
dbSNP Id:
rs11780911
ExAC:
8:145004546 G / A
gnomAD v2:
8-145004546-G-A
gnomAD v3:
8-143930378-G-A
gnomAD v4:
8-143930378-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143930378G>A , CM000670.2:g.143930378G>A | GRCh38 |
| NC_000008.10:g.145004546G>A , CM000670.1:g.145004546G>A | GRCh37 |
| NC_000008.9:g.145076534G>A | NCBI36 |
| NG_012492.1:g.51368C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.2589+6C>T | ENSP00000437303.2:n.2589+6C>T | |
| ENST00000685198.1:c.2508+6C>T | ENSP00000510528.1:n.2508+6C>T | |
| ENST00000687971.1:c.2175+6C>T | ENSP00000510788.1:n.2175+6C>T | |
| ENST00000693060.1:c.2388+6C>T | ENSP00000510329.1:n.2388+6C>T | |
| ENST00000345136.8:c.2457+6C>T MANE Select | ENSP00000344848.3:n.2457+6C>T | |
| ENST00000527303.2:c.2538+6C>T | ENSP00000433982.2:n.2538+6C>T | |
| ENST00000322810.8:c.2868+6C>T | ENSP00000323856.4:n.2868+6C>T | |
| ENST00000345136.7:c.2457+6C>T | ENSP00000344848.3:n.2457+6C>T | |
| ENST00000354589.7:c.2457+6C>T | ENSP00000346602.3:n.2457+6C>T | |
| ENST00000354958.6:c.2391+6C>T | ENSP00000347044.2:n.2391+6C>T | |
| ENST00000356346.7:c.2415+6C>T MANE Plus Clinical | ENSP00000348702.3:n.2415+6C>T | |
| ENST00000357649.6:c.2469+6C>T | ENSP00000350277.2:n.2469+6C>T | |
| ENST00000398774.6:c.2361+6C>T | ENSP00000381756.2:n.2361+6C>T | |
| ENST00000436759.6:c.2538+6C>T | ENSP00000388180.2:n.2538+6C>T | |
| ENST00000527096.5:c.2526+6C>T | ENSP00000434583.1:n.2526+6C>T | |
| NM_000445.4:c.2538+6C>T | NP_000436.2:n.2538+6C>T | |
| NM_201378.3:c.2415+6C>T | NP_958780.1:n.2415+6C>T | |
| NM_201379.2:c.2391+6C>T | NP_958781.1:n.2391+6C>T | |
| NM_201380.3:c.2868+6C>T | NP_958782.1:n.2868+6C>T | |
| NM_201381.2:c.2361+6C>T | NP_958783.1:n.2361+6C>T | |
| NM_201382.3:c.2457+6C>T | NP_958784.1:n.2457+6C>T | |
| NM_201383.2:c.2469+6C>T | NP_958785.1:n.2469+6C>T | |
| NM_201384.2:c.2457+6C>T | NP_958786.1:n.2457+6C>T | |
| XM_005250976.2:c.2883+6C>T | XP_005251033.1:n.2883+6C>T | |
| XM_005250978.2:c.2484+6C>T | XP_005251035.1:n.2484+6C>T | |
| XM_005250979.3:c.2472+6C>T | XP_005251036.1:n.2472+6C>T | |
| XM_005250980.3:c.2472+6C>T | XP_005251037.1:n.2472+6C>T | |
| XM_005250981.2:c.2430+6C>T | XP_005251038.1:n.2430+6C>T | |
| XM_005250982.2:c.2406+6C>T | XP_005251039.1:n.2406+6C>T | |
| XM_005250983.2:c.2388+6C>T | XP_005251040.1:n.2388+6C>T | |
| XM_005250984.3:c.2376+6C>T | XP_005251041.1:n.2376+6C>T | |
| XM_006716588.2:c.2553+6C>T | XP_006716651.1:n.2553+6C>T | |
| XM_006716589.2:c.2403+6C>T | XP_006716652.1:n.2403+6C>T | |
| XM_006716590.2:c.2403+6C>T | XP_006716653.1:n.2403+6C>T | |
| XM_011517130.1:c.2472+6C>T | XP_011515432.1:n.2472+6C>T | |
| XM_011517131.1:c.2388+6C>T | XP_011515433.1:n.2388+6C>T | |
| XM_011517132.1:c.2484+6C>T | XP_011515434.1:n.2484+6C>T | |
| XM_005250976.4:c.2883+6C>T | XP_005251033.1:n.2883+6C>T | |
| XM_005250978.3:c.2484+6C>T | XP_005251035.1:n.2484+6C>T | |
| XM_005250979.4:c.2472+6C>T | XP_005251036.1:n.2472+6C>T | |
| XM_005250980.4:c.2472+6C>T | XP_005251037.1:n.2472+6C>T | |
| XM_005250981.3:c.2430+6C>T | XP_005251038.1:n.2430+6C>T | |
| XM_005250982.4:c.2406+6C>T | XP_005251039.1:n.2406+6C>T | |
| XM_005250984.5:c.2376+6C>T | XP_005251041.1:n.2376+6C>T | |
| XM_006716588.3:c.2553+6C>T | XP_006716651.1:n.2553+6C>T | |
| XM_006716590.3:c.2403+6C>T | XP_006716653.1:n.2403+6C>T | |
| XM_011517130.2:c.2472+6C>T | XP_011515432.1:n.2472+6C>T | |
| XM_011517131.2:c.2388+6C>T | XP_011515433.1:n.2388+6C>T | |
| XM_011517132.2:c.2484+6C>T | XP_011515434.1:n.2484+6C>T | |
| NM_000445.5:c.2538+6C>T | NP_000436.2:n.2538+6C>T | |
| NM_201378.4:c.2415+6C>T MANE Plus Clinical | NP_958780.1:n.2415+6C>T | |
| NM_201379.3:c.2391+6C>T | NP_958781.1:n.2391+6C>T | |
| NM_201380.4:c.2868+6C>T | NP_958782.1:n.2868+6C>T | |
| NM_201381.3:c.2361+6C>T | NP_958783.1:n.2361+6C>T | |
| NM_201382.4:c.2457+6C>T | NP_958784.1:n.2457+6C>T | |
| NM_201383.3:c.2469+6C>T | NP_958785.1:n.2469+6C>T | |
| NM_201384.3:c.2457+6C>T MANE Select | NP_958786.1:n.2457+6C>T |