Linked Data
ClinVar Variation Id:
196060
ClinVar RCV Id:
RCV000259119
RCV000274523
RCV000299241
RCV000242513
RCV000259353
RCV000317203
RCV000356458
RCV000366970
RCV000487528
RCV001081800
RCV001798632
RCV004528940
dbSNP Id:
rs376820301
ExAC:
2:179427343 C / T
gnomAD v2:
2-179427343-C-T
gnomAD v3:
2-178562616-C-T
gnomAD v4:
2-178562616-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178562616C>T , CM000664.2:g.178562616C>T | GRCh38 |
| NC_000002.11:g.179427343C>T , CM000664.1:g.179427343C>T | GRCh37 |
| NC_000002.10:g.179135589C>T | NCBI36 |
| NG_011618.3:g.273187G>A , LRG_391:g.273187G>A | |
| NG_051363.1:g.44790C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75812G>A (TTN) | ENSP00000343764.6:p.Arg25271Gln | |
| ENST00000342175.11:c.56897G>A (TTN) | ENSP00000340554.6:p.Arg18966Gln | |
| ENST00000359218.10:c.56696G>A (TTN) | ENSP00000352154.5:p.Arg18899Gln | |
| ENST00000342175.10:c.56897G>A (TTN) | ENSP00000340554.6:p.Arg18966Gln | |
| ENST00000342992.10:c.75812G>A (TTN) | ENSP00000343764.6:p.Arg25271Gln | |
| ENST00000359218.9:c.56696G>A (TTN) | ENSP00000352154.5:p.Arg18899Gln | |
| ENST00000460472.6:c.56321G>A (TTN) | ENSP00000434586.1:p.Arg18774Gln | |
| ENST00000589042.5:c.83516G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg27839Gln | |
| ENST00000591111.5:c.78593G>A (TTN) | ENSP00000465570.1:p.Arg26198Gln | |
| ENST00000615779.4:c.78593G>A (TTN) | ENSP00000483597.1:p.Arg26198Gln | |
| NM_001256850.1:c.78593G>A (TTN) | NP_001243779.1:p.Arg26198Gln | |
| NM_001267550.2:c.83516G>A (TTN) MANE Select | NP_001254479.2:p.Arg27839Gln | |
| NM_003319.4:c.56321G>A (TTN) | NP_003310.4:p.Arg18774Gln | |
| NM_133378.4:c.75812G>A (TTN) | NP_596869.4:p.Arg25271Gln | |
| NM_133432.3:c.56696G>A (TTN) | NP_597676.3:p.Arg18899Gln | |
| NM_133437.4:c.56897G>A (TTN) | NP_597681.4:p.Arg18966Gln | |
| NR_038271.1:n.447-8684C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-19956C>T (TTN-AS1) | ||
| XM_011511729.1:c.82613G>A (TTN) | XP_011510031.1:p.Arg27538Gln | |
| XM_011511730.1:c.56507G>A (TTN) | XP_011510032.1:p.Arg18836Gln | |
| XM_011511731.1:c.56366G>A (TTN) | XP_011510033.1:p.Arg18789Gln | |
| XM_017004819.1:c.82409G>A (TTN) | XP_016860308.1:p.Arg27470Gln | |
| XM_017004820.1:c.77807G>A (TTN) | XP_016860309.1:p.Arg25936Gln | |
| XM_017004821.1:c.77804G>A (TTN) | XP_016860310.1:p.Arg25935Gln | |
| XM_017004822.1:c.74846G>A (TTN) | XP_016860311.1:p.Arg24949Gln | |
| XM_017004823.1:c.56462G>A (TTN) | XP_016860312.1:p.Arg18821Gln | |
| XM_024453094.1:c.77957G>A (TTN) | XP_024308862.1:p.Arg25986Gln | |
| XM_024453095.1:c.77954G>A (TTN) | XP_024308863.1:p.Arg25985Gln | |
| XM_024453096.1:c.77387G>A (TTN) | XP_024308864.1:p.Arg25796Gln | |
| XM_024453097.1:c.74729G>A (TTN) | XP_024308865.1:p.Arg24910Gln | |
| XM_024453098.1:c.74648G>A (TTN) | XP_024308866.1:p.Arg24883Gln | |
| XM_024453099.1:c.56411G>A (TTN) | XP_024308867.1:p.Arg18804Gln | |
| XM_024453100.1:c.46265G>A (TTN) | XP_024308868.1:p.Arg15422Gln |