Linked Data
ClinVar Variation Id:
196106
dbSNP Id:
rs146685404
ExAC:
8:145001714 C / A
gnomAD v2:
8-145001714-C-A
gnomAD v3:
8-143927546-C-A
gnomAD v4:
8-143927546-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143927546C>A , CM000670.2:g.143927546C>A | GRCh38 |
| NC_000008.10:g.145001714C>A , CM000670.1:g.145001714C>A | GRCh37 |
| NC_000008.9:g.145073702C>A | NCBI36 |
| NG_012492.1:g.54200G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.3752G>T | ENSP00000437303.2:p.Arg1251Leu | |
| ENST00000685198.1:c.3671G>T | ENSP00000510528.1:p.Arg1224Leu | |
| ENST00000687971.1:c.3338G>T | ENSP00000510788.1:p.Arg1113Leu | |
| ENST00000693060.1:c.3551G>T | ENSP00000510329.1:p.Arg1184Leu | |
| ENST00000345136.8:c.3620G>T MANE Select | ENSP00000344848.3:p.Arg1207Leu | |
| ENST00000527303.2:c.3701G>T | ENSP00000433982.2:p.Arg1234Leu | |
| ENST00000322810.8:c.4031G>T | ENSP00000323856.4:p.Arg1344Leu | |
| ENST00000345136.7:c.3620G>T | ENSP00000344848.3:p.Arg1207Leu | |
| ENST00000354589.7:c.3620G>T | ENSP00000346602.3:p.Arg1207Leu | |
| ENST00000354958.6:c.3554G>T | ENSP00000347044.2:p.Arg1185Leu | |
| ENST00000356346.7:c.3578G>T MANE Plus Clinical | ENSP00000348702.3:p.Arg1193Leu | |
| ENST00000357649.6:c.3632G>T | ENSP00000350277.2:p.Arg1211Leu | |
| ENST00000398774.6:c.3524G>T | ENSP00000381756.2:p.Arg1175Leu | |
| ENST00000436759.6:c.3701G>T | ENSP00000388180.2:p.Arg1234Leu | |
| ENST00000527096.5:c.3689G>T | ENSP00000434583.1:p.Arg1230Leu | |
| NM_000445.4:c.3701G>T | NP_000436.2:p.Arg1234Leu | |
| NM_201378.3:c.3578G>T | NP_958780.1:p.Arg1193Leu | |
| NM_201379.2:c.3554G>T | NP_958781.1:p.Arg1185Leu | |
| NM_201380.3:c.4031G>T | NP_958782.1:p.Arg1344Leu | |
| NM_201381.2:c.3524G>T | NP_958783.1:p.Arg1175Leu | |
| NM_201382.3:c.3620G>T | NP_958784.1:p.Arg1207Leu | |
| NM_201383.2:c.3632G>T | NP_958785.1:p.Arg1211Leu | |
| NM_201384.2:c.3620G>T | NP_958786.1:p.Arg1207Leu | |
| XM_005250976.2:c.4046G>T | XP_005251033.1:p.Arg1349Leu | |
| XM_005250978.2:c.3647G>T | XP_005251035.1:p.Arg1216Leu | |
| XM_005250979.3:c.3635G>T | XP_005251036.1:p.Arg1212Leu | |
| XM_005250980.3:c.3635G>T | XP_005251037.1:p.Arg1212Leu | |
| XM_005250981.2:c.3593G>T | XP_005251038.1:p.Arg1198Leu | |
| XM_005250982.2:c.3569G>T | XP_005251039.1:p.Arg1190Leu | |
| XM_005250983.2:c.3551G>T | XP_005251040.1:p.Arg1184Leu | |
| XM_005250984.3:c.3539G>T | XP_005251041.1:p.Arg1180Leu | |
| XM_006716588.2:c.3716G>T | XP_006716651.1:p.Arg1239Leu | |
| XM_006716589.2:c.3566G>T | XP_006716652.1:p.Arg1189Leu | |
| XM_006716590.2:c.3566G>T | XP_006716653.1:p.Arg1189Leu | |
| XM_011517130.1:c.3635G>T | XP_011515432.1:p.Arg1212Leu | |
| XM_011517131.1:c.3551G>T | XP_011515433.1:p.Arg1184Leu | |
| XM_011517132.1:c.3647G>T | XP_011515434.1:p.Arg1216Leu | |
| XM_005250976.4:c.4046G>T | XP_005251033.1:p.Arg1349Leu | |
| XM_005250978.3:c.3647G>T | XP_005251035.1:p.Arg1216Leu | |
| XM_005250979.4:c.3635G>T | XP_005251036.1:p.Arg1212Leu | |
| XM_005250980.4:c.3635G>T | XP_005251037.1:p.Arg1212Leu | |
| XM_005250981.3:c.3593G>T | XP_005251038.1:p.Arg1198Leu | |
| XM_005250982.4:c.3569G>T | XP_005251039.1:p.Arg1190Leu | |
| XM_005250984.5:c.3539G>T | XP_005251041.1:p.Arg1180Leu | |
| XM_006716588.3:c.3716G>T | XP_006716651.1:p.Arg1239Leu | |
| XM_006716590.3:c.3566G>T | XP_006716653.1:p.Arg1189Leu | |
| XM_011517130.2:c.3635G>T | XP_011515432.1:p.Arg1212Leu | |
| XM_011517131.2:c.3551G>T | XP_011515433.1:p.Arg1184Leu | |
| XM_011517132.2:c.3647G>T | XP_011515434.1:p.Arg1216Leu | |
| NM_000445.5:c.3701G>T | NP_000436.2:p.Arg1234Leu | |
| NM_201378.4:c.3578G>T MANE Plus Clinical | NP_958780.1:p.Arg1193Leu | |
| NM_201379.3:c.3554G>T | NP_958781.1:p.Arg1185Leu | |
| NM_201380.4:c.4031G>T | NP_958782.1:p.Arg1344Leu | |
| NM_201381.3:c.3524G>T | NP_958783.1:p.Arg1175Leu | |
| NM_201382.4:c.3620G>T | NP_958784.1:p.Arg1207Leu | |
| NM_201383.3:c.3632G>T | NP_958785.1:p.Arg1211Leu | |
| NM_201384.3:c.3620G>T MANE Select | NP_958786.1:p.Arg1207Leu |