Linked Data
ClinVar Variation Id:
332679
ClinVar RCV Id:
RCV000339047
RCV000396167
RCV000304393
RCV000396160
RCV000345257
RCV002411225
RCV001405894
RCV004530328
dbSNP Id:
rs761965591
ExAC:
2:179393552 G / A
gnomAD v2:
2-179393552-G-A
gnomAD v3:
2-178528825-G-A
gnomAD v4:
2-178528825-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178528825G>A , CM000664.2:g.178528825G>A | GRCh38 |
| NC_000002.11:g.179393552G>A , CM000664.1:g.179393552G>A | GRCh37 |
| NC_000002.10:g.179101798G>A | NCBI36 |
| NG_011618.3:g.306978C>T , LRG_391:g.306978C>T | |
| NG_051363.1:g.10999G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99222C>T (TTN) | ENSP00000343764.6:p.Gly33074= | |
| ENST00000342175.11:c.80307C>T (TTN) | ENSP00000340554.6:p.Gly26769= | |
| ENST00000359218.10:c.80106C>T (TTN) | ENSP00000352154.5:p.Gly26702= | |
| ENST00000342175.10:c.80307C>T (TTN) | ENSP00000340554.6:p.Gly26769= | |
| ENST00000342992.10:c.99222C>T (TTN) | ENSP00000343764.6:p.Gly33074= | |
| ENST00000359218.9:c.80106C>T (TTN) | ENSP00000352154.5:p.Gly26702= | |
| ENST00000460472.6:c.79731C>T (TTN) | ENSP00000434586.1:p.Gly26577= | |
| ENST00000589042.5:c.106926C>T (TTN) MANE Select | ENSP00000467141.1:p.Gly35642= | |
| ENST00000591111.5:c.102003C>T (TTN) | ENSP00000465570.1:p.Gly34001= | |
| ENST00000615779.4:c.102003C>T (TTN) | ENSP00000483597.1:p.Gly34001= | |
| NM_001256850.1:c.102003C>T (TTN) | NP_001243779.1:p.Gly34001= | |
| NM_001267550.2:c.106926C>T (TTN) MANE Select | NP_001254479.2:p.Gly35642= | |
| NM_003319.4:c.79731C>T (TTN) | NP_003310.4:p.Gly26577= | |
| NM_133378.4:c.99222C>T (TTN) | NP_596869.4:p.Gly33074= | |
| NM_133432.3:c.80106C>T (TTN) | NP_597676.3:p.Gly26702= | |
| NM_133437.4:c.80307C>T (TTN) | NP_597681.4:p.Gly26769= | |
| NR_038271.1:n.446+5189G>A (TTN-AS1) | ||
| NR_038272.1:n.219+5189G>A (TTN-AS1) | ||
| XM_011511729.1:c.106023C>T (TTN) | XP_011510031.1:p.Gly35341= | |
| XM_011511730.1:c.79917C>T (TTN) | XP_011510032.1:p.Gly26639= | |
| XM_011511731.1:c.79776C>T (TTN) | XP_011510033.1:p.Gly26592= | |
| XM_017004819.1:c.105819C>T (TTN) | XP_016860308.1:p.Gly35273= | |
| XM_017004820.1:c.101217C>T (TTN) | XP_016860309.1:p.Gly33739= | |
| XM_017004821.1:c.101214C>T (TTN) | XP_016860310.1:p.Gly33738= | |
| XM_017004822.1:c.98256C>T (TTN) | XP_016860311.1:p.Gly32752= | |
| XM_017004823.1:c.79872C>T (TTN) | XP_016860312.1:p.Gly26624= | |
| XM_024453094.1:c.101367C>T (TTN) | XP_024308862.1:p.Gly33789= | |
| XM_024453095.1:c.101364C>T (TTN) | XP_024308863.1:p.Gly33788= | |
| XM_024453096.1:c.100797C>T (TTN) | XP_024308864.1:p.Gly33599= | |
| XM_024453097.1:c.98139C>T (TTN) | XP_024308865.1:p.Gly32713= | |
| XM_024453098.1:c.98058C>T (TTN) | XP_024308866.1:p.Gly32686= | |
| XM_024453099.1:c.79821C>T (TTN) | XP_024308867.1:p.Gly26607= | |
| XM_024453100.1:c.69675C>T (TTN) | XP_024308868.1:p.Gly23225= |