Linked Data
ClinVar Variation Id:
596318
dbSNP Id:
rs532388907
ExAC:
8:144997183 C / T
gnomAD v2:
8-144997183-C-T
gnomAD v3:
8-143923015-C-T
gnomAD v4:
8-143923015-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143923015C>T , CM000670.2:g.143923015C>T | GRCh38 |
| NC_000008.10:g.144997183C>T , CM000670.1:g.144997183C>T | GRCh37 |
| NC_000008.9:g.145069171C>T | NCBI36 |
| NG_012492.1:g.58731G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.7046G>A | ENSP00000437303.2:p.Arg2349Gln | |
| ENST00000685198.1:c.6965G>A | ENSP00000510528.1:p.Arg2322Gln | |
| ENST00000687971.1:c.6632G>A | ENSP00000510788.1:p.Arg2211Gln | |
| ENST00000693060.1:c.6845G>A | ENSP00000510329.1:p.Arg2282Gln | |
| ENST00000345136.8:c.6914G>A MANE Select | ENSP00000344848.3:p.Arg2305Gln | |
| ENST00000527303.2:c.4126-620G>A | ENSP00000433982.2:n.4126-620G>A | |
| ENST00000322810.8:c.7325G>A | ENSP00000323856.4:p.Arg2442Gln | |
| ENST00000345136.7:c.6914G>A | ENSP00000344848.3:p.Arg2305Gln | |
| ENST00000354589.7:c.6914G>A | ENSP00000346602.3:p.Arg2305Gln | |
| ENST00000354958.6:c.6848G>A | ENSP00000347044.2:p.Arg2283Gln | |
| ENST00000356346.7:c.6872G>A MANE Plus Clinical | ENSP00000348702.3:p.Arg2291Gln | |
| ENST00000357649.6:c.6926G>A | ENSP00000350277.2:p.Arg2309Gln | |
| ENST00000398774.6:c.6818G>A | ENSP00000381756.2:p.Arg2273Gln | |
| ENST00000436759.6:c.6995G>A | ENSP00000388180.2:p.Arg2332Gln | |
| ENST00000527096.5:c.6983G>A | ENSP00000434583.1:p.Arg2328Gln | |
| ENST00000527303.1:c.135-620G>A | ||
| NM_000445.4:c.6995G>A | NP_000436.2:p.Arg2332Gln | |
| NM_201378.3:c.6872G>A | NP_958780.1:p.Arg2291Gln | |
| NM_201379.2:c.6848G>A | NP_958781.1:p.Arg2283Gln | |
| NM_201380.3:c.7325G>A | NP_958782.1:p.Arg2442Gln | |
| NM_201381.2:c.6818G>A | NP_958783.1:p.Arg2273Gln | |
| NM_201382.3:c.6914G>A | NP_958784.1:p.Arg2305Gln | |
| NM_201383.2:c.6926G>A | NP_958785.1:p.Arg2309Gln | |
| NM_201384.2:c.6914G>A | NP_958786.1:p.Arg2305Gln | |
| XM_005250976.2:c.7340G>A | XP_005251033.1:p.Arg2447Gln | |
| XM_005250978.2:c.6941G>A | XP_005251035.1:p.Arg2314Gln | |
| XM_005250979.3:c.6929G>A | XP_005251036.1:p.Arg2310Gln | |
| XM_005250980.3:c.6929G>A | XP_005251037.1:p.Arg2310Gln | |
| XM_005250981.2:c.6887G>A | XP_005251038.1:p.Arg2296Gln | |
| XM_005250982.2:c.6863G>A | XP_005251039.1:p.Arg2288Gln | |
| XM_005250983.2:c.6845G>A | XP_005251040.1:p.Arg2282Gln | |
| XM_005250984.3:c.6833G>A | XP_005251041.1:p.Arg2278Gln | |
| XM_006716588.2:c.7010G>A | XP_006716651.1:p.Arg2337Gln | |
| XM_006716589.2:c.6860G>A | XP_006716652.1:p.Arg2287Gln | |
| XM_006716590.2:c.6860G>A | XP_006716653.1:p.Arg2287Gln | |
| XM_011517130.1:c.6929G>A | XP_011515432.1:p.Arg2310Gln | |
| XM_011517131.1:c.6845G>A | XP_011515433.1:p.Arg2282Gln | |
| XM_011517132.1:c.4072-620G>A | XP_011515434.1:n.4072-620G>A | |
| XM_005250976.4:c.7340G>A | XP_005251033.1:p.Arg2447Gln | |
| XM_005250978.3:c.6941G>A | XP_005251035.1:p.Arg2314Gln | |
| XM_005250979.4:c.6929G>A | XP_005251036.1:p.Arg2310Gln | |
| XM_005250980.4:c.6929G>A | XP_005251037.1:p.Arg2310Gln | |
| XM_005250981.3:c.6887G>A | XP_005251038.1:p.Arg2296Gln | |
| XM_005250982.4:c.6863G>A | XP_005251039.1:p.Arg2288Gln | |
| XM_005250984.5:c.6833G>A | XP_005251041.1:p.Arg2278Gln | |
| XM_006716588.3:c.7010G>A | XP_006716651.1:p.Arg2337Gln | |
| XM_006716590.3:c.6860G>A | XP_006716653.1:p.Arg2287Gln | |
| XM_011517130.2:c.6929G>A | XP_011515432.1:p.Arg2310Gln | |
| XM_011517131.2:c.6845G>A | XP_011515433.1:p.Arg2282Gln | |
| XM_011517132.2:c.4072-620G>A | XP_011515434.1:n.4072-620G>A | |
| NM_000445.5:c.6995G>A | NP_000436.2:p.Arg2332Gln | |
| NM_201378.4:c.6872G>A MANE Plus Clinical | NP_958780.1:p.Arg2291Gln | |
| NM_201379.3:c.6848G>A | NP_958781.1:p.Arg2283Gln | |
| NM_201380.4:c.7325G>A | NP_958782.1:p.Arg2442Gln | |
| NM_201381.3:c.6818G>A | NP_958783.1:p.Arg2273Gln | |
| NM_201382.4:c.6914G>A | NP_958784.1:p.Arg2305Gln | |
| NM_201383.3:c.6926G>A | NP_958785.1:p.Arg2309Gln | |
| NM_201384.3:c.6914G>A MANE Select | NP_958786.1:p.Arg2305Gln |