Linked Data
ClinVar Variation Id:
47187
ClinVar RCV Id:
RCV000040457
RCV000268107
RCV000278904
RCV000323386
RCV000373423
RCV000338583
RCV001079539
RCV000621929
RCV000726632
RCV003149652
dbSNP Id:
rs375006117
ExAC:
2:179453458 G / A
gnomAD v2:
2-179453458-G-A
gnomAD v3:
2-178588731-G-A
gnomAD v4:
2-178588731-G-A
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178588731G>A , CM000664.2:g.178588731G>A | GRCh38 |
| NC_000002.11:g.179453458G>A , CM000664.1:g.179453458G>A | GRCh37 |
| NC_000002.10:g.179161704G>A | NCBI36 |
| NG_011618.3:g.247072C>T , LRG_391:g.247072C>T | |
| NG_051363.1:g.70905G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.55290C>T (TTN) | ENSP00000343764.6:p.Tyr18430= | |
| ENST00000342175.11:c.36375C>T (TTN) | ENSP00000340554.6:p.Tyr12125= | |
| ENST00000359218.10:c.36174C>T (TTN) | ENSP00000352154.5:p.Tyr12058= | |
| ENST00000342175.10:c.36375C>T (TTN) | ENSP00000340554.6:p.Tyr12125= | |
| ENST00000342992.10:c.55290C>T (TTN) | ENSP00000343764.6:p.Tyr18430= | |
| ENST00000359218.9:c.36174C>T (TTN) | ENSP00000352154.5:p.Tyr12058= | |
| ENST00000460472.6:c.35799C>T (TTN) | ENSP00000434586.1:p.Tyr11933= | |
| ENST00000589042.5:c.62994C>T (TTN) MANE Select | ENSP00000467141.1:p.Tyr20998= | |
| ENST00000591111.5:c.58071C>T (TTN) | ENSP00000465570.1:p.Tyr19357= | |
| ENST00000615779.4:c.58071C>T (TTN) | ENSP00000483597.1:p.Tyr19357= | |
| NM_001256850.1:c.58071C>T (TTN) | NP_001243779.1:p.Tyr19357= | |
| NM_001267550.2:c.62994C>T (TTN) MANE Select | NP_001254479.2:p.Tyr20998= | |
| NM_003319.4:c.35799C>T (TTN) | NP_003310.4:p.Tyr11933= | |
| NM_133378.4:c.55290C>T (TTN) | NP_596869.4:p.Tyr18430= | |
| NM_133432.3:c.36174C>T (TTN) | NP_597676.3:p.Tyr12058= | |
| NM_133437.4:c.36375C>T (TTN) | NP_597681.4:p.Tyr12125= | |
| NR_038271.1:n.597-8865G>A (TTN-AS1) | ||
| NR_038272.1:n.3189-2408G>A (TTN-AS1) | ||
| XM_011511729.1:c.62091C>T (TTN) | XP_011510031.1:p.Tyr20697= | |
| XM_011511730.1:c.35985C>T (TTN) | XP_011510032.1:p.Tyr11995= | |
| XM_011511731.1:c.35844C>T (TTN) | XP_011510033.1:p.Tyr11948= | |
| XM_017004819.1:c.61887C>T (TTN) | XP_016860308.1:p.Tyr20629= | |
| XM_017004820.1:c.57285C>T (TTN) | XP_016860309.1:p.Tyr19095= | |
| XM_017004821.1:c.57282C>T (TTN) | XP_016860310.1:p.Tyr19094= | |
| XM_017004822.1:c.54324C>T (TTN) | XP_016860311.1:p.Tyr18108= | |
| XM_017004823.1:c.35940C>T (TTN) | XP_016860312.1:p.Tyr11980= | |
| XM_024453094.1:c.57435C>T (TTN) | XP_024308862.1:p.Tyr19145= | |
| XM_024453095.1:c.57432C>T (TTN) | XP_024308863.1:p.Tyr19144= | |
| XM_024453096.1:c.56865C>T (TTN) | XP_024308864.1:p.Tyr18955= | |
| XM_024453097.1:c.54207C>T (TTN) | XP_024308865.1:p.Tyr18069= | |
| XM_024453098.1:c.54126C>T (TTN) | XP_024308866.1:p.Tyr18042= | |
| XM_024453099.1:c.35889C>T (TTN) | XP_024308867.1:p.Tyr11963= | |
| XM_024453100.1:c.25743C>T (TTN) | XP_024308868.1:p.Tyr8581= |