Linked Data
ClinVar Variation Id:
498063
dbSNP Id:
rs758336721
ExAC:
2:179413224 G / A
gnomAD v2:
2-179413224-G-A
gnomAD v3:
2-178548497-G-A
gnomAD v4:
2-178548497-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548497G>A , CM000664.2:g.178548497G>A | GRCh38 |
| NC_000002.11:g.179413224G>A , CM000664.1:g.179413224G>A | GRCh37 |
| NC_000002.10:g.179121470G>A | NCBI36 |
| NG_011618.3:g.287306C>T , LRG_391:g.287306C>T | |
| NG_051363.1:g.30671G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.85425C>T (TTN) | ENSP00000343764.6:p.Asp28475= | |
| ENST00000342175.11:c.66510C>T (TTN) | ENSP00000340554.6:p.Asp22170= | |
| ENST00000359218.10:c.66309C>T (TTN) | ENSP00000352154.5:p.Asp22103= | |
| ENST00000342175.10:c.66510C>T (TTN) | ENSP00000340554.6:p.Asp22170= | |
| ENST00000342992.10:c.85425C>T (TTN) | ENSP00000343764.6:p.Asp28475= | |
| ENST00000359218.9:c.66309C>T (TTN) | ENSP00000352154.5:p.Asp22103= | |
| ENST00000460472.6:c.65934C>T (TTN) | ENSP00000434586.1:p.Asp21978= | |
| ENST00000589042.5:c.93129C>T (TTN) MANE Select | ENSP00000467141.1:p.Asp31043= | |
| ENST00000591111.5:c.88206C>T (TTN) | ENSP00000465570.1:p.Asp29402= | |
| ENST00000615779.4:c.88206C>T (TTN) | ENSP00000483597.1:p.Asp29402= | |
| NM_001256850.1:c.88206C>T (TTN) | NP_001243779.1:p.Asp29402= | |
| NM_001267550.2:c.93129C>T (TTN) MANE Select | NP_001254479.2:p.Asp31043= | |
| NM_003319.4:c.65934C>T (TTN) | NP_003310.4:p.Asp21978= | |
| NM_133378.4:c.85425C>T (TTN) | NP_596869.4:p.Asp28475= | |
| NM_133432.3:c.66309C>T (TTN) | NP_597676.3:p.Asp22103= | |
| NM_133437.4:c.66510C>T (TTN) | NP_597681.4:p.Asp22170= | |
| NR_038271.1:n.447-22803G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+6136G>A (TTN-AS1) | ||
| XM_011511729.1:c.92226C>T (TTN) | XP_011510031.1:p.Asp30742= | |
| XM_011511730.1:c.66120C>T (TTN) | XP_011510032.1:p.Asp22040= | |
| XM_011511731.1:c.65979C>T (TTN) | XP_011510033.1:p.Asp21993= | |
| XM_017004819.1:c.92022C>T (TTN) | XP_016860308.1:p.Asp30674= | |
| XM_017004820.1:c.87420C>T (TTN) | XP_016860309.1:p.Asp29140= | |
| XM_017004821.1:c.87417C>T (TTN) | XP_016860310.1:p.Asp29139= | |
| XM_017004822.1:c.84459C>T (TTN) | XP_016860311.1:p.Asp28153= | |
| XM_017004823.1:c.66075C>T (TTN) | XP_016860312.1:p.Asp22025= | |
| XM_024453094.1:c.87570C>T (TTN) | XP_024308862.1:p.Asp29190= | |
| XM_024453095.1:c.87567C>T (TTN) | XP_024308863.1:p.Asp29189= | |
| XM_024453096.1:c.87000C>T (TTN) | XP_024308864.1:p.Asp29000= | |
| XM_024453097.1:c.84342C>T (TTN) | XP_024308865.1:p.Asp28114= | |
| XM_024453098.1:c.84261C>T (TTN) | XP_024308866.1:p.Asp28087= | |
| XM_024453099.1:c.66024C>T (TTN) | XP_024308867.1:p.Asp22008= | |
| XM_024453100.1:c.55878C>T (TTN) | XP_024308868.1:p.Asp18626= |