Linked Data
ClinVar Variation Id:
223295
ClinVar RCV Id:
RCV000209383
RCV000243897
RCV000476159
RCV000788393
RCV003147408
RCV003147407
RCV003147409
RCV003147410
RCV003147411
RCV003147412
dbSNP Id:
rs770038577
gnomAD v2:
2-179425769-G-A
gnomAD v3:
2-178561042-G-A
gnomAD v4:
2-178561042-G-A
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178561042G>A , CM000664.2:g.178561042G>A | GRCh38 |
| NC_000002.11:g.179425769G>A , CM000664.1:g.179425769G>A | GRCh37 |
| NC_000002.10:g.179134015G>A | NCBI36 |
| NG_011618.3:g.274761C>T , LRG_391:g.274761C>T | |
| NG_051363.1:g.43216G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.77386C>T (TTN) | ENSP00000343764.6:p.Arg25796Ter | |
| ENST00000342175.11:c.58471C>T (TTN) | ENSP00000340554.6:p.Arg19491Ter | |
| ENST00000359218.10:c.58270C>T (TTN) | ENSP00000352154.5:p.Arg19424Ter | |
| ENST00000342175.10:c.58471C>T (TTN) | ENSP00000340554.6:p.Arg19491Ter | |
| ENST00000342992.10:c.77386C>T (TTN) | ENSP00000343764.6:p.Arg25796Ter | |
| ENST00000359218.9:c.58270C>T (TTN) | ENSP00000352154.5:p.Arg19424Ter | |
| ENST00000460472.6:c.57895C>T (TTN) | ENSP00000434586.1:p.Arg19299Ter | |
| ENST00000589042.5:c.85090C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg28364Ter | |
| ENST00000591111.5:c.80167C>T (TTN) | ENSP00000465570.1:p.Arg26723Ter | |
| ENST00000615779.4:c.80167C>T (TTN) | ENSP00000483597.1:p.Arg26723Ter | |
| NM_001256850.1:c.80167C>T (TTN) | NP_001243779.1:p.Arg26723Ter | |
| NM_001267550.2:c.85090C>T (TTN) MANE Select | NP_001254479.2:p.Arg28364Ter | |
| NM_003319.4:c.57895C>T (TTN) | NP_003310.4:p.Arg19299Ter | |
| NM_133378.4:c.77386C>T (TTN) | NP_596869.4:p.Arg25796Ter | |
| NM_133432.3:c.58270C>T (TTN) | NP_597676.3:p.Arg19424Ter | |
| NM_133437.4:c.58471C>T (TTN) | NP_597681.4:p.Arg19491Ter | |
| NR_038271.1:n.447-10258G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+18681G>A (TTN-AS1) | ||
| XM_011511729.1:c.84187C>T (TTN) | XP_011510031.1:p.Arg28063Ter | |
| XM_011511730.1:c.58081C>T (TTN) | XP_011510032.1:p.Arg19361Ter | |
| XM_011511731.1:c.57940C>T (TTN) | XP_011510033.1:p.Arg19314Ter | |
| XM_017004819.1:c.83983C>T (TTN) | XP_016860308.1:p.Arg27995Ter | |
| XM_017004820.1:c.79381C>T (TTN) | XP_016860309.1:p.Arg26461Ter | |
| XM_017004821.1:c.79378C>T (TTN) | XP_016860310.1:p.Arg26460Ter | |
| XM_017004822.1:c.76420C>T (TTN) | XP_016860311.1:p.Arg25474Ter | |
| XM_017004823.1:c.58036C>T (TTN) | XP_016860312.1:p.Arg19346Ter | |
| XM_024453094.1:c.79531C>T (TTN) | XP_024308862.1:p.Arg26511Ter | |
| XM_024453095.1:c.79528C>T (TTN) | XP_024308863.1:p.Arg26510Ter | |
| XM_024453096.1:c.78961C>T (TTN) | XP_024308864.1:p.Arg26321Ter | |
| XM_024453097.1:c.76303C>T (TTN) | XP_024308865.1:p.Arg25435Ter | |
| XM_024453098.1:c.76222C>T (TTN) | XP_024308866.1:p.Arg25408Ter | |
| XM_024453099.1:c.57985C>T (TTN) | XP_024308867.1:p.Arg19329Ter | |
| XM_024453100.1:c.47839C>T (TTN) | XP_024308868.1:p.Arg15947Ter |