Linked Data
ClinVar Variation Id:
448763
ClinVar RCV Id:
RCV000516320
RCV000834759
RCV001134357
RCV001134358
RCV001134359
RCV001131356
RCV001131355
RCV002395240
dbSNP Id:
rs779064623
ExAC:
2:179399452 G / T
gnomAD v2:
2-179399452-G-T
gnomAD v3:
2-178534725-G-T
gnomAD v4:
2-178534725-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534725G>T , CM000664.2:g.178534725G>T | GRCh38 |
| NC_000002.11:g.179399452G>T , CM000664.1:g.179399452G>T | GRCh37 |
| NC_000002.10:g.179107698G>T | NCBI36 |
| NG_011618.3:g.301078C>A , LRG_391:g.301078C>A | |
| NG_051363.1:g.16899G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94186C>A (TTN) | ENSP00000343764.6:p.Arg31396Ser | |
| ENST00000342175.11:c.75271C>A (TTN) | ENSP00000340554.6:p.Arg25091Ser | |
| ENST00000359218.10:c.75070C>A (TTN) | ENSP00000352154.5:p.Arg25024Ser | |
| ENST00000342175.10:c.75271C>A (TTN) | ENSP00000340554.6:p.Arg25091Ser | |
| ENST00000342992.10:c.94186C>A (TTN) | ENSP00000343764.6:p.Arg31396Ser | |
| ENST00000359218.9:c.75070C>A (TTN) | ENSP00000352154.5:p.Arg25024Ser | |
| ENST00000460472.6:c.74695C>A (TTN) | ENSP00000434586.1:p.Arg24899Ser | |
| ENST00000589042.5:c.101890C>A (TTN) MANE Select | ENSP00000467141.1:p.Arg33964Ser | |
| ENST00000591111.5:c.96967C>A (TTN) | ENSP00000465570.1:p.Arg32323Ser | |
| ENST00000615779.4:c.96967C>A (TTN) | ENSP00000483597.1:p.Arg32323Ser | |
| NM_001256850.1:c.96967C>A (TTN) | NP_001243779.1:p.Arg32323Ser | |
| NM_001267550.2:c.101890C>A (TTN) MANE Select | NP_001254479.2:p.Arg33964Ser | |
| NM_003319.4:c.74695C>A (TTN) | NP_003310.4:p.Arg24899Ser | |
| NM_133378.4:c.94186C>A (TTN) | NP_596869.4:p.Arg31396Ser | |
| NM_133432.3:c.75070C>A (TTN) | NP_597676.3:p.Arg25024Ser | |
| NM_133437.4:c.75271C>A (TTN) | NP_597681.4:p.Arg25091Ser | |
| NR_038271.1:n.446+11089G>T (TTN-AS1) | ||
| NR_038272.1:n.220-1007G>T (TTN-AS1) | ||
| XM_011511729.1:c.100987C>A (TTN) | XP_011510031.1:p.Arg33663Ser | |
| XM_011511730.1:c.74881C>A (TTN) | XP_011510032.1:p.Arg24961Ser | |
| XM_011511731.1:c.74740C>A (TTN) | XP_011510033.1:p.Arg24914Ser | |
| XM_017004819.1:c.100783C>A (TTN) | XP_016860308.1:p.Arg33595Ser | |
| XM_017004820.1:c.96181C>A (TTN) | XP_016860309.1:p.Arg32061Ser | |
| XM_017004821.1:c.96178C>A (TTN) | XP_016860310.1:p.Arg32060Ser | |
| XM_017004822.1:c.93220C>A (TTN) | XP_016860311.1:p.Arg31074Ser | |
| XM_017004823.1:c.74836C>A (TTN) | XP_016860312.1:p.Arg24946Ser | |
| XM_024453094.1:c.96331C>A (TTN) | XP_024308862.1:p.Arg32111Ser | |
| XM_024453095.1:c.96328C>A (TTN) | XP_024308863.1:p.Arg32110Ser | |
| XM_024453096.1:c.95761C>A (TTN) | XP_024308864.1:p.Arg31921Ser | |
| XM_024453097.1:c.93103C>A (TTN) | XP_024308865.1:p.Arg31035Ser | |
| XM_024453098.1:c.93022C>A (TTN) | XP_024308866.1:p.Arg31008Ser | |
| XM_024453099.1:c.74785C>A (TTN) | XP_024308867.1:p.Arg24929Ser | |
| XM_024453100.1:c.64639C>A (TTN) | XP_024308868.1:p.Arg21547Ser |