Linked Data
ClinVar Variation Id:
535184
ClinVar RCV Id:
RCV000643013
RCV000713972
RCV001129110
RCV001129111
RCV001129112
RCV001129113
RCV001131798
dbSNP Id:
rs530572005
ExAC:
2:179600300 T / C
gnomAD v2:
2-179600300-T-C
gnomAD v3:
2-178735573-T-C
gnomAD v4:
2-178735573-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178735573T>C , CM000664.2:g.178735573T>C | GRCh38 |
| NC_000002.11:g.179600300T>C , CM000664.1:g.179600300T>C | GRCh37 |
| NC_000002.10:g.179308545T>C | NCBI36 |
| NG_011618.3:g.100230A>G , LRG_391:g.100230A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.11141A>G | ENSP00000343764.6:p.Tyr3714Cys | |
| ENST00000342175.11:c.13858+2509A>G | ENSP00000340554.6:n.13858+2509A>G | |
| ENST00000359218.10:c.13657+2509A>G | ENSP00000352154.5:n.13657+2509A>G | |
| ENST00000342175.10:c.13858+2509A>G | ENSP00000340554.6:n.13858+2509A>G | |
| ENST00000342992.10:c.11141A>G | ENSP00000343764.6:p.Tyr3714Cys | |
| ENST00000359218.9:c.13657+2509A>G | ENSP00000352154.5:n.13657+2509A>G | |
| ENST00000460472.6:c.13282+2509A>G | ENSP00000434586.1:n.13282+2509A>G | |
| ENST00000589042.5:c.14873A>G MANE Select | ENSP00000467141.1:p.Tyr4958Cys | |
| ENST00000591111.5:c.13922A>G | ENSP00000465570.1:p.Tyr4641Cys | |
| ENST00000615779.4:c.13922A>G | ENSP00000483597.1:p.Tyr4641Cys | |
| NM_001256850.1:c.13922A>G | NP_001243779.1:p.Tyr4641Cys | |
| NM_001267550.2:c.14873A>G MANE Select | NP_001254479.2:p.Tyr4958Cys | |
| NM_003319.4:c.13282+2509A>G | NP_003310.4:n.13282+2509A>G | |
| NM_133378.4:c.11141A>G | NP_596869.4:p.Tyr3714Cys | |
| NM_133432.3:c.13657+2509A>G | NP_597676.3:n.13657+2509A>G | |
| NM_133437.4:c.13858+2509A>G | NP_597681.4:n.13858+2509A>G | |
| XM_011511729.1:c.13970A>G | XP_011510031.1:p.Tyr4657Cys | |
| XM_011511730.1:c.13468+2509A>G | XP_011510032.1:n.13468+2509A>G | |
| XM_011511731.1:c.13327+2509A>G | XP_011510033.1:n.13327+2509A>G | |
| XM_017004819.1:c.13925A>G | XP_016860308.1:p.Tyr4642Cys | |
| XM_017004820.1:c.11144A>G | XP_016860309.1:p.Tyr3715Cys | |
| XM_017004821.1:c.11141A>G | XP_016860310.1:p.Tyr3714Cys | |
| XM_017004822.1:c.13925A>G | XP_016860311.1:p.Tyr4642Cys | |
| XM_017004823.1:c.13423+2509A>G | XP_016860312.1:n.13423+2509A>G | |
| XM_024453094.1:c.13925A>G | XP_024308862.1:p.Tyr4642Cys | |
| XM_024453095.1:c.13925A>G | XP_024308863.1:p.Tyr4642Cys | |
| XM_024453096.1:c.13925A>G | XP_024308864.1:p.Tyr4642Cys | |
| XM_024453097.1:c.13925A>G | XP_024308865.1:p.Tyr4642Cys | |
| XM_024453098.1:c.13925A>G | XP_024308866.1:p.Tyr4642Cys | |
| XM_024453099.1:c.13423+2509A>G | XP_024308867.1:n.13423+2509A>G |