Linked Data
ClinVar Variation Id:
179036
ClinVar RCV Id:
RCV000155820
RCV000260975
RCV000262328
RCV000316313
RCV000322180
RCV000375521
RCV000542437
RCV000726570
RCV003149949
RCV002415668
dbSNP Id:
rs377337528
ExAC:
2:179393658 G / A
gnomAD v2:
2-179393658-G-A
gnomAD v3:
2-178528931-G-A
gnomAD v4:
2-178528931-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178528931G>A , CM000664.2:g.178528931G>A | GRCh38 |
| NC_000002.11:g.179393658G>A , CM000664.1:g.179393658G>A | GRCh37 |
| NC_000002.10:g.179101904G>A | NCBI36 |
| NG_011618.3:g.306872C>T , LRG_391:g.306872C>T | |
| NG_051363.1:g.11105G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99116C>T (TTN) | ENSP00000343764.6:p.Ala33039Val | |
| ENST00000342175.11:c.80201C>T (TTN) | ENSP00000340554.6:p.Ala26734Val | |
| ENST00000359218.10:c.80000C>T (TTN) | ENSP00000352154.5:p.Ala26667Val | |
| ENST00000342175.10:c.80201C>T (TTN) | ENSP00000340554.6:p.Ala26734Val | |
| ENST00000342992.10:c.99116C>T (TTN) | ENSP00000343764.6:p.Ala33039Val | |
| ENST00000359218.9:c.80000C>T (TTN) | ENSP00000352154.5:p.Ala26667Val | |
| ENST00000460472.6:c.79625C>T (TTN) | ENSP00000434586.1:p.Ala26542Val | |
| ENST00000589042.5:c.106820C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala35607Val | |
| ENST00000591111.5:c.101897C>T (TTN) | ENSP00000465570.1:p.Ala33966Val | |
| ENST00000615779.4:c.101897C>T (TTN) | ENSP00000483597.1:p.Ala33966Val | |
| NM_001256850.1:c.101897C>T (TTN) | NP_001243779.1:p.Ala33966Val | |
| NM_001267550.2:c.106820C>T (TTN) MANE Select | NP_001254479.2:p.Ala35607Val | |
| NM_003319.4:c.79625C>T (TTN) | NP_003310.4:p.Ala26542Val | |
| NM_133378.4:c.99116C>T (TTN) | NP_596869.4:p.Ala33039Val | |
| NM_133432.3:c.80000C>T (TTN) | NP_597676.3:p.Ala26667Val | |
| NM_133437.4:c.80201C>T (TTN) | NP_597681.4:p.Ala26734Val | |
| NR_038271.1:n.446+5295G>A (TTN-AS1) | ||
| NR_038272.1:n.219+5295G>A (TTN-AS1) | ||
| XM_011511729.1:c.105917C>T (TTN) | XP_011510031.1:p.Ala35306Val | |
| XM_011511730.1:c.79811C>T (TTN) | XP_011510032.1:p.Ala26604Val | |
| XM_011511731.1:c.79670C>T (TTN) | XP_011510033.1:p.Ala26557Val | |
| XM_017004819.1:c.105713C>T (TTN) | XP_016860308.1:p.Ala35238Val | |
| XM_017004820.1:c.101111C>T (TTN) | XP_016860309.1:p.Ala33704Val | |
| XM_017004821.1:c.101108C>T (TTN) | XP_016860310.1:p.Ala33703Val | |
| XM_017004822.1:c.98150C>T (TTN) | XP_016860311.1:p.Ala32717Val | |
| XM_017004823.1:c.79766C>T (TTN) | XP_016860312.1:p.Ala26589Val | |
| XM_024453094.1:c.101261C>T (TTN) | XP_024308862.1:p.Ala33754Val | |
| XM_024453095.1:c.101258C>T (TTN) | XP_024308863.1:p.Ala33753Val | |
| XM_024453096.1:c.100691C>T (TTN) | XP_024308864.1:p.Ala33564Val | |
| XM_024453097.1:c.98033C>T (TTN) | XP_024308865.1:p.Ala32678Val | |
| XM_024453098.1:c.97952C>T (TTN) | XP_024308866.1:p.Ala32651Val | |
| XM_024453099.1:c.79715C>T (TTN) | XP_024308867.1:p.Ala26572Val | |
| XM_024453100.1:c.69569C>T (TTN) | XP_024308868.1:p.Ala23190Val |