Linked Data
ClinVar Variation Id:
2952090
ClinVar RCV Id:
RCV003815241
dbSNP Id:
rs1554720598
gnomAD v2:
8-145008500-G-T
gnomAD v4:
8-143934332-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143934332G>T , CM000670.2:g.143934332G>T | GRCh38 |
| NC_000008.10:g.145008500G>T , CM000670.1:g.145008500G>T | GRCh37 |
| NC_000008.9:g.145080488G>T | NCBI36 |
| NG_012492.1:g.47414C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.1287C>A | ENSP00000437303.2:p.Arg429= | |
| ENST00000685198.1:c.1206C>A | ENSP00000510528.1:p.Arg402= | |
| ENST00000687971.1:c.873C>A | ENSP00000510788.1:p.Arg291= | |
| ENST00000693060.1:c.1086C>A | ENSP00000510329.1:p.Arg362= | |
| ENST00000345136.8:c.1155C>A MANE Select | ENSP00000344848.3:p.Arg385= | |
| ENST00000527303.2:c.1236C>A | ENSP00000433982.2:p.Arg412= | |
| ENST00000322810.8:c.1566C>A | ENSP00000323856.4:p.Arg522= | |
| ENST00000345136.7:c.1155C>A | ENSP00000344848.3:p.Arg385= | |
| ENST00000354589.7:c.1155C>A | ENSP00000346602.3:p.Arg385= | |
| ENST00000354958.6:c.1089C>A | ENSP00000347044.2:p.Arg363= | |
| ENST00000356346.7:c.1113C>A MANE Plus Clinical | ENSP00000348702.3:p.Arg371= | |
| ENST00000357649.6:c.1167C>A | ENSP00000350277.2:p.Arg389= | |
| ENST00000398774.6:c.1059C>A | ENSP00000381756.2:p.Arg353= | |
| ENST00000436759.6:c.1236C>A | ENSP00000388180.2:p.Arg412= | |
| ENST00000527096.5:c.1224C>A | ENSP00000434583.1:p.Arg408= | |
| ENST00000528025.5:c.1287C>A | ENSP00000437303.1:p.Arg429= | |
| NM_000445.4:c.1236C>A | NP_000436.2:p.Arg412= | |
| NM_201378.3:c.1113C>A | NP_958780.1:p.Arg371= | |
| NM_201379.2:c.1089C>A | NP_958781.1:p.Arg363= | |
| NM_201380.3:c.1566C>A | NP_958782.1:p.Arg522= | |
| NM_201381.2:c.1059C>A | NP_958783.1:p.Arg353= | |
| NM_201382.3:c.1155C>A | NP_958784.1:p.Arg385= | |
| NM_201383.2:c.1167C>A | NP_958785.1:p.Arg389= | |
| NM_201384.2:c.1155C>A | NP_958786.1:p.Arg385= | |
| XM_005250976.2:c.1581C>A | XP_005251033.1:p.Arg527= | |
| XM_005250978.2:c.1182C>A | XP_005251035.1:p.Arg394= | |
| XM_005250979.3:c.1170C>A | XP_005251036.1:p.Arg390= | |
| XM_005250980.3:c.1170C>A | XP_005251037.1:p.Arg390= | |
| XM_005250981.2:c.1128C>A | XP_005251038.1:p.Arg376= | |
| XM_005250982.2:c.1104C>A | XP_005251039.1:p.Arg368= | |
| XM_005250983.2:c.1086C>A | XP_005251040.1:p.Arg362= | |
| XM_005250984.3:c.1074C>A | XP_005251041.1:p.Arg358= | |
| XM_006716588.2:c.1251C>A | XP_006716651.1:p.Arg417= | |
| XM_006716589.2:c.1101C>A | XP_006716652.1:p.Arg367= | |
| XM_006716590.2:c.1101C>A | XP_006716653.1:p.Arg367= | |
| XM_011517130.1:c.1170C>A | XP_011515432.1:p.Arg390= | |
| XM_011517131.1:c.1086C>A | XP_011515433.1:p.Arg362= | |
| XM_011517132.1:c.1182C>A | XP_011515434.1:p.Arg394= | |
| XM_005250976.4:c.1581C>A | XP_005251033.1:p.Arg527= | |
| XM_005250978.3:c.1182C>A | XP_005251035.1:p.Arg394= | |
| XM_005250979.4:c.1170C>A | XP_005251036.1:p.Arg390= | |
| XM_005250980.4:c.1170C>A | XP_005251037.1:p.Arg390= | |
| XM_005250981.3:c.1128C>A | XP_005251038.1:p.Arg376= | |
| XM_005250982.4:c.1104C>A | XP_005251039.1:p.Arg368= | |
| XM_005250984.5:c.1074C>A | XP_005251041.1:p.Arg358= | |
| XM_006716588.3:c.1251C>A | XP_006716651.1:p.Arg417= | |
| XM_006716590.3:c.1101C>A | XP_006716653.1:p.Arg367= | |
| XM_011517130.2:c.1170C>A | XP_011515432.1:p.Arg390= | |
| XM_011517131.2:c.1086C>A | XP_011515433.1:p.Arg362= | |
| XM_011517132.2:c.1182C>A | XP_011515434.1:p.Arg394= | |
| NM_000445.5:c.1236C>A | NP_000436.2:p.Arg412= | |
| NM_201378.4:c.1113C>A MANE Plus Clinical | NP_958780.1:p.Arg371= | |
| NM_201379.3:c.1089C>A | NP_958781.1:p.Arg363= | |
| NM_201380.4:c.1566C>A | NP_958782.1:p.Arg522= | |
| NM_201381.3:c.1059C>A | NP_958783.1:p.Arg353= | |
| NM_201382.4:c.1155C>A | NP_958784.1:p.Arg385= | |
| NM_201383.3:c.1167C>A | NP_958785.1:p.Arg389= | |
| NM_201384.3:c.1155C>A MANE Select | NP_958786.1:p.Arg385= |