Linked Data
ClinVar Variation Id:
332708
ClinVar RCV Id:
RCV000275493
RCV000315284
RCV000330323
RCV000357183
RCV000370099
RCV000475410
RCV001508100
RCV001798785
RCV003335307
dbSNP Id:
rs766169253
ExAC:
2:179402624 G / A
gnomAD v2:
2-179402624-G-A
gnomAD v3:
2-178537897-G-A
gnomAD v4:
2-178537897-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537897G>A , CM000664.2:g.178537897G>A | GRCh38 |
| NC_000002.11:g.179402624G>A , CM000664.1:g.179402624G>A | GRCh37 |
| NC_000002.10:g.179110870G>A | NCBI36 |
| NG_011618.3:g.297906C>T , LRG_391:g.297906C>T | |
| NG_051363.1:g.20071G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91606C>T (TTN) | ENSP00000343764.6:p.Arg30536Cys | |
| ENST00000342175.11:c.72691C>T (TTN) | ENSP00000340554.6:p.Arg24231Cys | |
| ENST00000359218.10:c.72490C>T (TTN) | ENSP00000352154.5:p.Arg24164Cys | |
| ENST00000342175.10:c.72691C>T (TTN) | ENSP00000340554.6:p.Arg24231Cys | |
| ENST00000342992.10:c.91606C>T (TTN) | ENSP00000343764.6:p.Arg30536Cys | |
| ENST00000359218.9:c.72490C>T (TTN) | ENSP00000352154.5:p.Arg24164Cys | |
| ENST00000460472.6:c.72115C>T (TTN) | ENSP00000434586.1:p.Arg24039Cys | |
| ENST00000589042.5:c.99310C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg33104Cys | |
| ENST00000591111.5:c.94387C>T (TTN) | ENSP00000465570.1:p.Arg31463Cys | |
| ENST00000615779.4:c.94387C>T (TTN) | ENSP00000483597.1:p.Arg31463Cys | |
| NM_001256850.1:c.94387C>T (TTN) | NP_001243779.1:p.Arg31463Cys | |
| NM_001267550.2:c.99310C>T (TTN) MANE Select | NP_001254479.2:p.Arg33104Cys | |
| NM_003319.4:c.72115C>T (TTN) | NP_003310.4:p.Arg24039Cys | |
| NM_133378.4:c.91606C>T (TTN) | NP_596869.4:p.Arg30536Cys | |
| NM_133432.3:c.72490C>T (TTN) | NP_597676.3:p.Arg24164Cys | |
| NM_133437.4:c.72691C>T (TTN) | NP_597681.4:p.Arg24231Cys | |
| NR_038271.1:n.446+14261G>A (TTN-AS1) | ||
| NR_038272.1:n.647+206G>A (TTN-AS1) | ||
| XM_011511729.1:c.98407C>T (TTN) | XP_011510031.1:p.Arg32803Cys | |
| XM_011511730.1:c.72301C>T (TTN) | XP_011510032.1:p.Arg24101Cys | |
| XM_011511731.1:c.72160C>T (TTN) | XP_011510033.1:p.Arg24054Cys | |
| XM_017004819.1:c.98203C>T (TTN) | XP_016860308.1:p.Arg32735Cys | |
| XM_017004820.1:c.93601C>T (TTN) | XP_016860309.1:p.Arg31201Cys | |
| XM_017004821.1:c.93598C>T (TTN) | XP_016860310.1:p.Arg31200Cys | |
| XM_017004822.1:c.90640C>T (TTN) | XP_016860311.1:p.Arg30214Cys | |
| XM_017004823.1:c.72256C>T (TTN) | XP_016860312.1:p.Arg24086Cys | |
| XM_024453094.1:c.93751C>T (TTN) | XP_024308862.1:p.Arg31251Cys | |
| XM_024453095.1:c.93748C>T (TTN) | XP_024308863.1:p.Arg31250Cys | |
| XM_024453096.1:c.93181C>T (TTN) | XP_024308864.1:p.Arg31061Cys | |
| XM_024453097.1:c.90523C>T (TTN) | XP_024308865.1:p.Arg30175Cys | |
| XM_024453098.1:c.90442C>T (TTN) | XP_024308866.1:p.Arg30148Cys | |
| XM_024453099.1:c.72205C>T (TTN) | XP_024308867.1:p.Arg24069Cys | |
| XM_024453100.1:c.62059C>T (TTN) | XP_024308868.1:p.Arg20687Cys |