Linked Data
ClinVar Variation Id:
514366
dbSNP Id:
rs533410461
ExAC:
8:145002135 G / A
gnomAD v2:
8-145002135-G-A
gnomAD v3:
8-143927967-G-A
gnomAD v4:
8-143927967-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143927967G>A , CM000670.2:g.143927967G>A | GRCh38 |
| NC_000008.10:g.145002135G>A , CM000670.1:g.145002135G>A | GRCh37 |
| NC_000008.9:g.145074123G>A | NCBI36 |
| NG_012492.1:g.53779C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.3418C>T | ENSP00000437303.2:p.Arg1140Cys | |
| ENST00000685198.1:c.3337C>T | ENSP00000510528.1:p.Arg1113Cys | |
| ENST00000687971.1:c.3004C>T | ENSP00000510788.1:p.Arg1002Cys | |
| ENST00000693060.1:c.3217C>T | ENSP00000510329.1:p.Arg1073Cys | |
| ENST00000345136.8:c.3286C>T MANE Select | ENSP00000344848.3:p.Arg1096Cys | |
| ENST00000527303.2:c.3367C>T | ENSP00000433982.2:p.Arg1123Cys | |
| ENST00000322810.8:c.3697C>T | ENSP00000323856.4:p.Arg1233Cys | |
| ENST00000345136.7:c.3286C>T | ENSP00000344848.3:p.Arg1096Cys | |
| ENST00000354589.7:c.3286C>T | ENSP00000346602.3:p.Arg1096Cys | |
| ENST00000354958.6:c.3220C>T | ENSP00000347044.2:p.Arg1074Cys | |
| ENST00000356346.7:c.3244C>T MANE Plus Clinical | ENSP00000348702.3:p.Arg1082Cys | |
| ENST00000357649.6:c.3298C>T | ENSP00000350277.2:p.Arg1100Cys | |
| ENST00000398774.6:c.3190C>T | ENSP00000381756.2:p.Arg1064Cys | |
| ENST00000436759.6:c.3367C>T | ENSP00000388180.2:p.Arg1123Cys | |
| ENST00000527096.5:c.3355C>T | ENSP00000434583.1:p.Arg1119Cys | |
| NM_000445.4:c.3367C>T | NP_000436.2:p.Arg1123Cys | |
| NM_201378.3:c.3244C>T | NP_958780.1:p.Arg1082Cys | |
| NM_201379.2:c.3220C>T | NP_958781.1:p.Arg1074Cys | |
| NM_201380.3:c.3697C>T | NP_958782.1:p.Arg1233Cys | |
| NM_201381.2:c.3190C>T | NP_958783.1:p.Arg1064Cys | |
| NM_201382.3:c.3286C>T | NP_958784.1:p.Arg1096Cys | |
| NM_201383.2:c.3298C>T | NP_958785.1:p.Arg1100Cys | |
| NM_201384.2:c.3286C>T | NP_958786.1:p.Arg1096Cys | |
| XM_005250976.2:c.3712C>T | XP_005251033.1:p.Arg1238Cys | |
| XM_005250978.2:c.3313C>T | XP_005251035.1:p.Arg1105Cys | |
| XM_005250979.3:c.3301C>T | XP_005251036.1:p.Arg1101Cys | |
| XM_005250980.3:c.3301C>T | XP_005251037.1:p.Arg1101Cys | |
| XM_005250981.2:c.3259C>T | XP_005251038.1:p.Arg1087Cys | |
| XM_005250982.2:c.3235C>T | XP_005251039.1:p.Arg1079Cys | |
| XM_005250983.2:c.3217C>T | XP_005251040.1:p.Arg1073Cys | |
| XM_005250984.3:c.3205C>T | XP_005251041.1:p.Arg1069Cys | |
| XM_006716588.2:c.3382C>T | XP_006716651.1:p.Arg1128Cys | |
| XM_006716589.2:c.3232C>T | XP_006716652.1:p.Arg1078Cys | |
| XM_006716590.2:c.3232C>T | XP_006716653.1:p.Arg1078Cys | |
| XM_011517130.1:c.3301C>T | XP_011515432.1:p.Arg1101Cys | |
| XM_011517131.1:c.3217C>T | XP_011515433.1:p.Arg1073Cys | |
| XM_011517132.1:c.3313C>T | XP_011515434.1:p.Arg1105Cys | |
| XM_005250976.4:c.3712C>T | XP_005251033.1:p.Arg1238Cys | |
| XM_005250978.3:c.3313C>T | XP_005251035.1:p.Arg1105Cys | |
| XM_005250979.4:c.3301C>T | XP_005251036.1:p.Arg1101Cys | |
| XM_005250980.4:c.3301C>T | XP_005251037.1:p.Arg1101Cys | |
| XM_005250981.3:c.3259C>T | XP_005251038.1:p.Arg1087Cys | |
| XM_005250982.4:c.3235C>T | XP_005251039.1:p.Arg1079Cys | |
| XM_005250984.5:c.3205C>T | XP_005251041.1:p.Arg1069Cys | |
| XM_006716588.3:c.3382C>T | XP_006716651.1:p.Arg1128Cys | |
| XM_006716590.3:c.3232C>T | XP_006716653.1:p.Arg1078Cys | |
| XM_011517130.2:c.3301C>T | XP_011515432.1:p.Arg1101Cys | |
| XM_011517131.2:c.3217C>T | XP_011515433.1:p.Arg1073Cys | |
| XM_011517132.2:c.3313C>T | XP_011515434.1:p.Arg1105Cys | |
| NM_000445.5:c.3367C>T | NP_000436.2:p.Arg1123Cys | |
| NM_201378.4:c.3244C>T MANE Plus Clinical | NP_958780.1:p.Arg1082Cys | |
| NM_201379.3:c.3220C>T | NP_958781.1:p.Arg1074Cys | |
| NM_201380.4:c.3697C>T | NP_958782.1:p.Arg1233Cys | |
| NM_201381.3:c.3190C>T | NP_958783.1:p.Arg1064Cys | |
| NM_201382.4:c.3286C>T | NP_958784.1:p.Arg1096Cys | |
| NM_201383.3:c.3298C>T | NP_958785.1:p.Arg1100Cys | |
| NM_201384.3:c.3286C>T MANE Select | NP_958786.1:p.Arg1096Cys |