Linked Data
ClinVar Variation Id:
264486
dbSNP Id:
rs200773170
ExAC:
2:179397060 C / T
gnomAD v2:
2-179397060-C-T
gnomAD v3:
2-178532333-C-T
gnomAD v4:
2-178532333-C-T
PubMed:
PMID:17976239
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532333C>T , CM000664.2:g.178532333C>T | GRCh38 |
| NC_000002.11:g.179397060C>T , CM000664.1:g.179397060C>T | GRCh37 |
| NC_000002.10:g.179105306C>T | NCBI36 |
| NG_011618.3:g.303470G>A , LRG_391:g.303470G>A | |
| NG_051363.1:g.14507C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96578G>A (TTN) | ENSP00000343764.6:p.Arg32193Gln | |
| ENST00000342175.11:c.77663G>A (TTN) | ENSP00000340554.6:p.Arg25888Gln | |
| ENST00000359218.10:c.77462G>A (TTN) | ENSP00000352154.5:p.Arg25821Gln | |
| ENST00000342175.10:c.77663G>A (TTN) | ENSP00000340554.6:p.Arg25888Gln | |
| ENST00000342992.10:c.96578G>A (TTN) | ENSP00000343764.6:p.Arg32193Gln | |
| ENST00000359218.9:c.77462G>A (TTN) | ENSP00000352154.5:p.Arg25821Gln | |
| ENST00000460472.6:c.77087G>A (TTN) | ENSP00000434586.1:p.Arg25696Gln | |
| ENST00000589042.5:c.104282G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg34761Gln | |
| ENST00000591111.5:c.99359G>A (TTN) | ENSP00000465570.1:p.Arg33120Gln | |
| ENST00000615779.4:c.99359G>A (TTN) | ENSP00000483597.1:p.Arg33120Gln | |
| NM_001256850.1:c.99359G>A (TTN) | NP_001243779.1:p.Arg33120Gln | |
| NM_001267550.2:c.104282G>A (TTN) MANE Select | NP_001254479.2:p.Arg34761Gln | |
| NM_003319.4:c.77087G>A (TTN) | NP_003310.4:p.Arg25696Gln | |
| NM_133378.4:c.96578G>A (TTN) | NP_596869.4:p.Arg32193Gln | |
| NM_133432.3:c.77462G>A (TTN) | NP_597676.3:p.Arg25821Gln | |
| NM_133437.4:c.77663G>A (TTN) | NP_597681.4:p.Arg25888Gln | |
| NR_038271.1:n.446+8697C>T (TTN-AS1) | ||
| NR_038272.1:n.220-3399C>T (TTN-AS1) | ||
| XM_011511729.1:c.103379G>A (TTN) | XP_011510031.1:p.Arg34460Gln | |
| XM_011511730.1:c.77273G>A (TTN) | XP_011510032.1:p.Arg25758Gln | |
| XM_011511731.1:c.77132G>A (TTN) | XP_011510033.1:p.Arg25711Gln | |
| XM_017004819.1:c.103175G>A (TTN) | XP_016860308.1:p.Arg34392Gln | |
| XM_017004820.1:c.98573G>A (TTN) | XP_016860309.1:p.Arg32858Gln | |
| XM_017004821.1:c.98570G>A (TTN) | XP_016860310.1:p.Arg32857Gln | |
| XM_017004822.1:c.95612G>A (TTN) | XP_016860311.1:p.Arg31871Gln | |
| XM_017004823.1:c.77228G>A (TTN) | XP_016860312.1:p.Arg25743Gln | |
| XM_024453094.1:c.98723G>A (TTN) | XP_024308862.1:p.Arg32908Gln | |
| XM_024453095.1:c.98720G>A (TTN) | XP_024308863.1:p.Arg32907Gln | |
| XM_024453096.1:c.98153G>A (TTN) | XP_024308864.1:p.Arg32718Gln | |
| XM_024453097.1:c.95495G>A (TTN) | XP_024308865.1:p.Arg31832Gln | |
| XM_024453098.1:c.95414G>A (TTN) | XP_024308866.1:p.Arg31805Gln | |
| XM_024453099.1:c.77177G>A (TTN) | XP_024308867.1:p.Arg25726Gln | |
| XM_024453100.1:c.67031G>A (TTN) | XP_024308868.1:p.Arg22344Gln |