Linked Data
ClinVar Variation Id:
283223
dbSNP Id:
rs553047216
ExAC:
8:145000020 G / A
gnomAD v2:
8-145000020-G-A
gnomAD v3:
8-143925852-G-A
gnomAD v4:
8-143925852-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143925852G>A , CM000670.2:g.143925852G>A | GRCh38 |
| NC_000008.10:g.145000020G>A , CM000670.1:g.145000020G>A | GRCh37 |
| NC_000008.9:g.145072008G>A | NCBI36 |
| NG_012492.1:g.55894C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.4209C>T | ENSP00000437303.2:p.Arg1403= | |
| ENST00000685198.1:c.4128C>T | ENSP00000510528.1:p.Arg1376= | |
| ENST00000687971.1:c.3795C>T | ENSP00000510788.1:p.Arg1265= | |
| ENST00000693060.1:c.4008C>T | ENSP00000510329.1:p.Arg1336= | |
| ENST00000345136.8:c.4077C>T MANE Select | ENSP00000344848.3:p.Arg1359= | |
| ENST00000527303.2:c.4125+932C>T | ENSP00000433982.2:n.4125+932C>T | |
| ENST00000322810.8:c.4488C>T | ENSP00000323856.4:p.Arg1496= | |
| ENST00000345136.7:c.4077C>T | ENSP00000344848.3:p.Arg1359= | |
| ENST00000354589.7:c.4077C>T | ENSP00000346602.3:p.Arg1359= | |
| ENST00000354958.6:c.4011C>T | ENSP00000347044.2:p.Arg1337= | |
| ENST00000356346.7:c.4035C>T MANE Plus Clinical | ENSP00000348702.3:p.Arg1345= | |
| ENST00000357649.6:c.4089C>T | ENSP00000350277.2:p.Arg1363= | |
| ENST00000398774.6:c.3981C>T | ENSP00000381756.2:p.Arg1327= | |
| ENST00000436759.6:c.4158C>T | ENSP00000388180.2:p.Arg1386= | |
| ENST00000527096.5:c.4146C>T | ENSP00000434583.1:p.Arg1382= | |
| ENST00000527303.1:c.134+932C>T | ||
| NM_000445.4:c.4158C>T | NP_000436.2:p.Arg1386= | |
| NM_201378.3:c.4035C>T | NP_958780.1:p.Arg1345= | |
| NM_201379.2:c.4011C>T | NP_958781.1:p.Arg1337= | |
| NM_201380.3:c.4488C>T | NP_958782.1:p.Arg1496= | |
| NM_201381.2:c.3981C>T | NP_958783.1:p.Arg1327= | |
| NM_201382.3:c.4077C>T | NP_958784.1:p.Arg1359= | |
| NM_201383.2:c.4089C>T | NP_958785.1:p.Arg1363= | |
| NM_201384.2:c.4077C>T | NP_958786.1:p.Arg1359= | |
| XM_005250976.2:c.4503C>T | XP_005251033.1:p.Arg1501= | |
| XM_005250978.2:c.4104C>T | XP_005251035.1:p.Arg1368= | |
| XM_005250979.3:c.4092C>T | XP_005251036.1:p.Arg1364= | |
| XM_005250980.3:c.4092C>T | XP_005251037.1:p.Arg1364= | |
| XM_005250981.2:c.4050C>T | XP_005251038.1:p.Arg1350= | |
| XM_005250982.2:c.4026C>T | XP_005251039.1:p.Arg1342= | |
| XM_005250983.2:c.4008C>T | XP_005251040.1:p.Arg1336= | |
| XM_005250984.3:c.3996C>T | XP_005251041.1:p.Arg1332= | |
| XM_006716588.2:c.4173C>T | XP_006716651.1:p.Arg1391= | |
| XM_006716589.2:c.4023C>T | XP_006716652.1:p.Arg1341= | |
| XM_006716590.2:c.4023C>T | XP_006716653.1:p.Arg1341= | |
| XM_011517130.1:c.4092C>T | XP_011515432.1:p.Arg1364= | |
| XM_011517131.1:c.4008C>T | XP_011515433.1:p.Arg1336= | |
| XM_011517132.1:c.4071+932C>T | XP_011515434.1:n.4071+932C>T | |
| XM_005250976.4:c.4503C>T | XP_005251033.1:p.Arg1501= | |
| XM_005250978.3:c.4104C>T | XP_005251035.1:p.Arg1368= | |
| XM_005250979.4:c.4092C>T | XP_005251036.1:p.Arg1364= | |
| XM_005250980.4:c.4092C>T | XP_005251037.1:p.Arg1364= | |
| XM_005250981.3:c.4050C>T | XP_005251038.1:p.Arg1350= | |
| XM_005250982.4:c.4026C>T | XP_005251039.1:p.Arg1342= | |
| XM_005250984.5:c.3996C>T | XP_005251041.1:p.Arg1332= | |
| XM_006716588.3:c.4173C>T | XP_006716651.1:p.Arg1391= | |
| XM_006716590.3:c.4023C>T | XP_006716653.1:p.Arg1341= | |
| XM_011517130.2:c.4092C>T | XP_011515432.1:p.Arg1364= | |
| XM_011517131.2:c.4008C>T | XP_011515433.1:p.Arg1336= | |
| XM_011517132.2:c.4071+932C>T | XP_011515434.1:n.4071+932C>T | |
| NM_000445.5:c.4158C>T | NP_000436.2:p.Arg1386= | |
| NM_201378.4:c.4035C>T MANE Plus Clinical | NP_958780.1:p.Arg1345= | |
| NM_201379.3:c.4011C>T | NP_958781.1:p.Arg1337= | |
| NM_201380.4:c.4488C>T | NP_958782.1:p.Arg1496= | |
| NM_201381.3:c.3981C>T | NP_958783.1:p.Arg1327= | |
| NM_201382.4:c.4077C>T | NP_958784.1:p.Arg1359= | |
| NM_201383.3:c.4089C>T | NP_958785.1:p.Arg1363= | |
| NM_201384.3:c.4077C>T MANE Select | NP_958786.1:p.Arg1359= |