Linked Data
ClinVar Variation Id:
47709
ClinVar RCV Id:
RCV000040978
RCV000172601
RCV000269028
RCV000357546
RCV000328741
RCV000363681
RCV000400183
RCV000621595
RCV001082037
RCV004537123
dbSNP Id:
rs55725279
ExAC:
2:179393898 T / A
gnomAD v2:
2-179393898-T-A
gnomAD v3:
2-178529171-T-A
gnomAD v4:
2-178529171-T-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178529171T>A , CM000664.2:g.178529171T>A | GRCh38 |
| NC_000002.11:g.179393898T>A , CM000664.1:g.179393898T>A | GRCh37 |
| NC_000002.10:g.179102144T>A | NCBI36 |
| NG_011618.3:g.306632A>T , LRG_391:g.306632A>T | |
| NG_051363.1:g.11345T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98876A>T (TTN) | ENSP00000343764.6:p.Glu32959Val | |
| ENST00000342175.11:c.79961A>T (TTN) | ENSP00000340554.6:p.Glu26654Val | |
| ENST00000359218.10:c.79760A>T (TTN) | ENSP00000352154.5:p.Glu26587Val | |
| ENST00000342175.10:c.79961A>T (TTN) | ENSP00000340554.6:p.Glu26654Val | |
| ENST00000342992.10:c.98876A>T (TTN) | ENSP00000343764.6:p.Glu32959Val | |
| ENST00000359218.9:c.79760A>T (TTN) | ENSP00000352154.5:p.Glu26587Val | |
| ENST00000460472.6:c.79385A>T (TTN) | ENSP00000434586.1:p.Glu26462Val | |
| ENST00000589042.5:c.106580A>T (TTN) MANE Select | ENSP00000467141.1:p.Glu35527Val | |
| ENST00000591111.5:c.101657A>T (TTN) | ENSP00000465570.1:p.Glu33886Val | |
| ENST00000615779.4:c.101657A>T (TTN) | ENSP00000483597.1:p.Glu33886Val | |
| NM_001256850.1:c.101657A>T (TTN) | NP_001243779.1:p.Glu33886Val | |
| NM_001267550.2:c.106580A>T (TTN) MANE Select | NP_001254479.2:p.Glu35527Val | |
| NM_003319.4:c.79385A>T (TTN) | NP_003310.4:p.Glu26462Val | |
| NM_133378.4:c.98876A>T (TTN) | NP_596869.4:p.Glu32959Val | |
| NM_133432.3:c.79760A>T (TTN) | NP_597676.3:p.Glu26587Val | |
| NM_133437.4:c.79961A>T (TTN) | NP_597681.4:p.Glu26654Val | |
| NR_038271.1:n.446+5535T>A (TTN-AS1) | ||
| NR_038272.1:n.219+5535T>A (TTN-AS1) | ||
| XM_011511729.1:c.105677A>T (TTN) | XP_011510031.1:p.Glu35226Val | |
| XM_011511730.1:c.79571A>T (TTN) | XP_011510032.1:p.Glu26524Val | |
| XM_011511731.1:c.79430A>T (TTN) | XP_011510033.1:p.Glu26477Val | |
| XM_017004819.1:c.105473A>T (TTN) | XP_016860308.1:p.Glu35158Val | |
| XM_017004820.1:c.100871A>T (TTN) | XP_016860309.1:p.Glu33624Val | |
| XM_017004821.1:c.100868A>T (TTN) | XP_016860310.1:p.Glu33623Val | |
| XM_017004822.1:c.97910A>T (TTN) | XP_016860311.1:p.Glu32637Val | |
| XM_017004823.1:c.79526A>T (TTN) | XP_016860312.1:p.Glu26509Val | |
| XM_024453094.1:c.101021A>T (TTN) | XP_024308862.1:p.Glu33674Val | |
| XM_024453095.1:c.101018A>T (TTN) | XP_024308863.1:p.Glu33673Val | |
| XM_024453096.1:c.100451A>T (TTN) | XP_024308864.1:p.Glu33484Val | |
| XM_024453097.1:c.97793A>T (TTN) | XP_024308865.1:p.Glu32598Val | |
| XM_024453098.1:c.97712A>T (TTN) | XP_024308866.1:p.Glu32571Val | |
| XM_024453099.1:c.79475A>T (TTN) | XP_024308867.1:p.Glu26492Val | |
| XM_024453100.1:c.69329A>T (TTN) | XP_024308868.1:p.Glu23110Val |