Linked Data
ClinVar Variation Id:
47685
ClinVar RCV Id:
RCV000040954
RCV000306236
RCV000291115
RCV000342687
RCV000474673
RCV000386216
RCV000406153
RCV001170284
RCV000622179
RCV001703919
dbSNP Id:
rs371075036
ExAC:
2:179396159 C / T
gnomAD v2:
2-179396159-C-T
gnomAD v3:
2-178531432-C-T
gnomAD v4:
2-178531432-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531432C>T , CM000664.2:g.178531432C>T | GRCh38 |
| NC_000002.11:g.179396159C>T , CM000664.1:g.179396159C>T | GRCh37 |
| NC_000002.10:g.179104405C>T | NCBI36 |
| NG_011618.3:g.304371G>A , LRG_391:g.304371G>A | |
| NG_051363.1:g.13606C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97479G>A (TTN) | ENSP00000343764.6:p.Ala32493= | |
| ENST00000342175.11:c.78564G>A (TTN) | ENSP00000340554.6:p.Ala26188= | |
| ENST00000359218.10:c.78363G>A (TTN) | ENSP00000352154.5:p.Ala26121= | |
| ENST00000342175.10:c.78564G>A (TTN) | ENSP00000340554.6:p.Ala26188= | |
| ENST00000342992.10:c.97479G>A (TTN) | ENSP00000343764.6:p.Ala32493= | |
| ENST00000359218.9:c.78363G>A (TTN) | ENSP00000352154.5:p.Ala26121= | |
| ENST00000460472.6:c.77988G>A (TTN) | ENSP00000434586.1:p.Ala25996= | |
| ENST00000589042.5:c.105183G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala35061= | |
| ENST00000591111.5:c.100260G>A (TTN) | ENSP00000465570.1:p.Ala33420= | |
| ENST00000615779.4:c.100260G>A (TTN) | ENSP00000483597.1:p.Ala33420= | |
| NM_001256850.1:c.100260G>A (TTN) | NP_001243779.1:p.Ala33420= | |
| NM_001267550.2:c.105183G>A (TTN) MANE Select | NP_001254479.2:p.Ala35061= | |
| NM_003319.4:c.77988G>A (TTN) | NP_003310.4:p.Ala25996= | |
| NM_133378.4:c.97479G>A (TTN) | NP_596869.4:p.Ala32493= | |
| NM_133432.3:c.78363G>A (TTN) | NP_597676.3:p.Ala26121= | |
| NM_133437.4:c.78564G>A (TTN) | NP_597681.4:p.Ala26188= | |
| NR_038271.1:n.446+7796C>T (TTN-AS1) | ||
| NR_038272.1:n.220-4300C>T (TTN-AS1) | ||
| XM_011511729.1:c.104280G>A (TTN) | XP_011510031.1:p.Ala34760= | |
| XM_011511730.1:c.78174G>A (TTN) | XP_011510032.1:p.Ala26058= | |
| XM_011511731.1:c.78033G>A (TTN) | XP_011510033.1:p.Ala26011= | |
| XM_017004819.1:c.104076G>A (TTN) | XP_016860308.1:p.Ala34692= | |
| XM_017004820.1:c.99474G>A (TTN) | XP_016860309.1:p.Ala33158= | |
| XM_017004821.1:c.99471G>A (TTN) | XP_016860310.1:p.Ala33157= | |
| XM_017004822.1:c.96513G>A (TTN) | XP_016860311.1:p.Ala32171= | |
| XM_017004823.1:c.78129G>A (TTN) | XP_016860312.1:p.Ala26043= | |
| XM_024453094.1:c.99624G>A (TTN) | XP_024308862.1:p.Ala33208= | |
| XM_024453095.1:c.99621G>A (TTN) | XP_024308863.1:p.Ala33207= | |
| XM_024453096.1:c.99054G>A (TTN) | XP_024308864.1:p.Ala33018= | |
| XM_024453097.1:c.96396G>A (TTN) | XP_024308865.1:p.Ala32132= | |
| XM_024453098.1:c.96315G>A (TTN) | XP_024308866.1:p.Ala32105= | |
| XM_024453099.1:c.78078G>A (TTN) | XP_024308867.1:p.Ala26026= | |
| XM_024453100.1:c.67932G>A (TTN) | XP_024308868.1:p.Ala22644= |