Linked Data
ClinVar Variation Id:
47294
ClinVar RCV Id:
RCV000040564
RCV000249890
RCV000227732
RCV000294398
RCV000352767
RCV000295463
RCV000337737
RCV000390725
RCV000768940
RCV001081336
RCV004534924
dbSNP Id:
rs72646891
ExAC:
2:179440027 G / A
gnomAD v2:
2-179440027-G-A
gnomAD v3:
2-178575300-G-A
gnomAD v4:
2-178575300-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575300G>A , CM000664.2:g.178575300G>A | GRCh38 |
| NC_000002.11:g.179440027G>A , CM000664.1:g.179440027G>A | GRCh37 |
| NC_000002.10:g.179148273G>A | NCBI36 |
| NG_011618.3:g.260503C>T , LRG_391:g.260503C>T | |
| NG_051363.1:g.57474G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.63128C>T (TTN) | ENSP00000343764.6:p.Ala21043Val | |
| ENST00000342175.11:c.44213C>T (TTN) | ENSP00000340554.6:p.Ala14738Val | |
| ENST00000359218.10:c.44012C>T (TTN) | ENSP00000352154.5:p.Ala14671Val | |
| ENST00000342175.10:c.44213C>T (TTN) | ENSP00000340554.6:p.Ala14738Val | |
| ENST00000342992.10:c.63128C>T (TTN) | ENSP00000343764.6:p.Ala21043Val | |
| ENST00000359218.9:c.44012C>T (TTN) | ENSP00000352154.5:p.Ala14671Val | |
| ENST00000460472.6:c.43637C>T (TTN) | ENSP00000434586.1:p.Ala14546Val | |
| ENST00000589042.5:c.70832C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala23611Val | |
| ENST00000591111.5:c.65909C>T (TTN) | ENSP00000465570.1:p.Ala21970Val | |
| ENST00000615779.4:c.65909C>T (TTN) | ENSP00000483597.1:p.Ala21970Val | |
| NM_001256850.1:c.65909C>T (TTN) | NP_001243779.1:p.Ala21970Val | |
| NM_001267550.2:c.70832C>T (TTN) MANE Select | NP_001254479.2:p.Ala23611Val | |
| NM_003319.4:c.43637C>T (TTN) | NP_003310.4:p.Ala14546Val | |
| NM_133378.4:c.63128C>T (TTN) | NP_596869.4:p.Ala21043Val | |
| NM_133432.3:c.44012C>T (TTN) | NP_597676.3:p.Ala14671Val | |
| NM_133437.4:c.44213C>T (TTN) | NP_597681.4:p.Ala14738Val | |
| NR_038271.1:n.596+3851G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-7272G>A (TTN-AS1) | ||
| XM_011511729.1:c.69929C>T (TTN) | XP_011510031.1:p.Ala23310Val | |
| XM_011511730.1:c.43823C>T (TTN) | XP_011510032.1:p.Ala14608Val | |
| XM_011511731.1:c.43682C>T (TTN) | XP_011510033.1:p.Ala14561Val | |
| XM_017004819.1:c.69725C>T (TTN) | XP_016860308.1:p.Ala23242Val | |
| XM_017004820.1:c.65123C>T (TTN) | XP_016860309.1:p.Ala21708Val | |
| XM_017004821.1:c.65120C>T (TTN) | XP_016860310.1:p.Ala21707Val | |
| XM_017004822.1:c.62162C>T (TTN) | XP_016860311.1:p.Ala20721Val | |
| XM_017004823.1:c.43778C>T (TTN) | XP_016860312.1:p.Ala14593Val | |
| XM_024453094.1:c.65273C>T (TTN) | XP_024308862.1:p.Ala21758Val | |
| XM_024453095.1:c.65270C>T (TTN) | XP_024308863.1:p.Ala21757Val | |
| XM_024453096.1:c.64703C>T (TTN) | XP_024308864.1:p.Ala21568Val | |
| XM_024453097.1:c.62045C>T (TTN) | XP_024308865.1:p.Ala20682Val | |
| XM_024453098.1:c.61964C>T (TTN) | XP_024308866.1:p.Ala20655Val | |
| XM_024453099.1:c.43727C>T (TTN) | XP_024308867.1:p.Ala14576Val | |
| XM_024453100.1:c.33581C>T (TTN) | XP_024308868.1:p.Ala11194Val |