Linked Data
ClinVar Variation Id:
202367
ClinVar RCV Id:
RCV000495986
RCV000623485
RCV000599630
RCV000538338
RCV000769014
RCV001818448
RCV002399686
dbSNP Id:
rs140743001
ExAC:
2:179494977 G / A
gnomAD v2:
2-179494977-G-A
gnomAD v3:
2-178630250-G-A
gnomAD v4:
2-178630250-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178630250G>A , CM000664.2:g.178630250G>A | GRCh38 |
| NC_000002.11:g.179494977G>A , CM000664.1:g.179494977G>A | GRCh37 |
| NC_000002.10:g.179203222G>A | NCBI36 |
| NG_011618.3:g.205553C>T , LRG_391:g.205553C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36568C>T | ENSP00000343764.6:p.Arg12190Ter | |
| ENST00000342175.11:c.17653C>T | ENSP00000340554.6:p.Arg5885Ter | |
| ENST00000359218.10:c.17452C>T | ENSP00000352154.5:p.Arg5818Ter | |
| ENST00000342175.10:c.17653C>T | ENSP00000340554.6:p.Arg5885Ter | |
| ENST00000342992.10:c.36568C>T | ENSP00000343764.6:p.Arg12190Ter | |
| ENST00000359218.9:c.17452C>T | ENSP00000352154.5:p.Arg5818Ter | |
| ENST00000460472.6:c.17077C>T | ENSP00000434586.1:p.Arg5693Ter | |
| ENST00000589042.5:c.44272C>T MANE Select | ENSP00000467141.1:p.Arg14758Ter | |
| ENST00000591111.5:c.39349C>T | ENSP00000465570.1:p.Arg13117Ter | |
| ENST00000615779.4:c.39349C>T | ENSP00000483597.1:p.Arg13117Ter | |
| NM_001256850.1:c.39349C>T | NP_001243779.1:p.Arg13117Ter | |
| NM_001267550.2:c.44272C>T MANE Select | NP_001254479.2:p.Arg14758Ter | |
| NM_003319.4:c.17077C>T | NP_003310.4:p.Arg5693Ter | |
| NM_133378.4:c.36568C>T | NP_596869.4:p.Arg12190Ter | |
| NM_133432.3:c.17452C>T | NP_597676.3:p.Arg5818Ter | |
| NM_133437.4:c.17653C>T | NP_597681.4:p.Arg5885Ter | |
| XM_011511729.1:c.43369C>T | XP_011510031.1:p.Arg14457Ter | |
| XM_011511730.1:c.17263C>T | XP_011510032.1:p.Arg5755Ter | |
| XM_011511731.1:c.17122C>T | XP_011510033.1:p.Arg5708Ter | |
| XM_017004819.1:c.43165C>T | XP_016860308.1:p.Arg14389Ter | |
| XM_017004820.1:c.38563C>T | XP_016860309.1:p.Arg12855Ter | |
| XM_017004821.1:c.38560C>T | XP_016860310.1:p.Arg12854Ter | |
| XM_017004822.1:c.35602C>T | XP_016860311.1:p.Arg11868Ter | |
| XM_017004823.1:c.17218C>T | XP_016860312.1:p.Arg5740Ter | |
| XM_024453094.1:c.38713C>T | XP_024308862.1:p.Arg12905Ter | |
| XM_024453095.1:c.38710C>T | XP_024308863.1:p.Arg12904Ter | |
| XM_024453096.1:c.38143C>T | XP_024308864.1:p.Arg12715Ter | |
| XM_024453097.1:c.35485C>T | XP_024308865.1:p.Arg11829Ter | |
| XM_024453098.1:c.35404C>T | XP_024308866.1:p.Arg11802Ter | |
| XM_024453099.1:c.17167C>T | XP_024308867.1:p.Arg5723Ter | |
| XM_024453100.1:c.7021C>T | XP_024308868.1:p.Arg2341Ter |