Linked Data
ClinVar Variation Id:
165967
ClinVar RCV Id:
RCV000152299
RCV000549971
RCV001529448
RCV001840083
RCV001840084
RCV001840085
RCV001840086
RCV002433660
dbSNP Id:
rs377164046
ExAC:
2:179466212 G / A
gnomAD v2:
2-179466212-G-A
gnomAD v3:
2-178601485-G-A
gnomAD v4:
2-178601485-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178601485G>A , CM000664.2:g.178601485G>A | GRCh38 |
| NC_000002.11:g.179466212G>A , CM000664.1:g.179466212G>A | GRCh37 |
| NC_000002.10:g.179174457G>A | NCBI36 |
| NG_011618.3:g.234318C>T , LRG_391:g.234318C>T | |
| NG_051363.1:g.83659G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47808C>T (TTN) | ENSP00000343764.6:p.Asp15936= | |
| ENST00000342175.11:c.28893C>T (TTN) | ENSP00000340554.6:p.Asp9631= | |
| ENST00000359218.10:c.28692C>T (TTN) | ENSP00000352154.5:p.Asp9564= | |
| ENST00000342175.10:c.28893C>T (TTN) | ENSP00000340554.6:p.Asp9631= | |
| ENST00000342992.10:c.47808C>T (TTN) | ENSP00000343764.6:p.Asp15936= | |
| ENST00000359218.9:c.28692C>T (TTN) | ENSP00000352154.5:p.Asp9564= | |
| ENST00000460472.6:c.28317C>T (TTN) | ENSP00000434586.1:p.Asp9439= | |
| ENST00000589042.5:c.55512C>T (TTN) MANE Select | ENSP00000467141.1:p.Asp18504= | |
| ENST00000591111.5:c.50589C>T (TTN) | ENSP00000465570.1:p.Asp16863= | |
| ENST00000615779.4:c.50589C>T (TTN) | ENSP00000483597.1:p.Asp16863= | |
| NM_001256850.1:c.50589C>T (TTN) | NP_001243779.1:p.Asp16863= | |
| NM_001267550.2:c.55512C>T (TTN) MANE Select | NP_001254479.2:p.Asp18504= | |
| NM_003319.4:c.28317C>T (TTN) | NP_003310.4:p.Asp9439= | |
| NM_133378.4:c.47808C>T (TTN) | NP_596869.4:p.Asp15936= | |
| NM_133432.3:c.28692C>T (TTN) | NP_597676.3:p.Asp9564= | |
| NM_133437.4:c.28893C>T (TTN) | NP_597681.4:p.Asp9631= | |
| NR_038271.1:n.682+3804G>A (TTN-AS1) | ||
| NR_038272.1:n.3917+818G>A (TTN-AS1) | ||
| XM_011511729.1:c.54609C>T (TTN) | XP_011510031.1:p.Asp18203= | |
| XM_011511730.1:c.28503C>T (TTN) | XP_011510032.1:p.Asp9501= | |
| XM_011511731.1:c.28362C>T (TTN) | XP_011510033.1:p.Asp9454= | |
| XM_017004819.1:c.54405C>T (TTN) | XP_016860308.1:p.Asp18135= | |
| XM_017004820.1:c.49803C>T (TTN) | XP_016860309.1:p.Asp16601= | |
| XM_017004821.1:c.49800C>T (TTN) | XP_016860310.1:p.Asp16600= | |
| XM_017004822.1:c.46842C>T (TTN) | XP_016860311.1:p.Asp15614= | |
| XM_017004823.1:c.28458C>T (TTN) | XP_016860312.1:p.Asp9486= | |
| XM_024453094.1:c.49953C>T (TTN) | XP_024308862.1:p.Asp16651= | |
| XM_024453095.1:c.49950C>T (TTN) | XP_024308863.1:p.Asp16650= | |
| XM_024453096.1:c.49383C>T (TTN) | XP_024308864.1:p.Asp16461= | |
| XM_024453097.1:c.46725C>T (TTN) | XP_024308865.1:p.Asp15575= | |
| XM_024453098.1:c.46644C>T (TTN) | XP_024308866.1:p.Asp15548= | |
| XM_024453099.1:c.28407C>T (TTN) | XP_024308867.1:p.Asp9469= | |
| XM_024453100.1:c.18261C>T (TTN) | XP_024308868.1:p.Asp6087= |