Linked Data
ClinVar Variation Id:
196083
dbSNP Id:
rs375764395
ExAC:
2:179433153 G / A
gnomAD v2:
2-179433153-G-A
gnomAD v3:
2-178568426-G-A
gnomAD v4:
2-178568426-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178568426G>A , CM000664.2:g.178568426G>A | GRCh38 |
| NC_000002.11:g.179433153G>A , CM000664.1:g.179433153G>A | GRCh37 |
| NC_000002.10:g.179141399G>A | NCBI36 |
| NG_011618.3:g.267377C>T , LRG_391:g.267377C>T | |
| NG_051363.1:g.50600G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.70002C>T (TTN) | ENSP00000343764.6:p.Asp23334= | |
| ENST00000342175.11:c.51087C>T (TTN) | ENSP00000340554.6:p.Asp17029= | |
| ENST00000359218.10:c.50886C>T (TTN) | ENSP00000352154.5:p.Asp16962= | |
| ENST00000342175.10:c.51087C>T (TTN) | ENSP00000340554.6:p.Asp17029= | |
| ENST00000342992.10:c.70002C>T (TTN) | ENSP00000343764.6:p.Asp23334= | |
| ENST00000359218.9:c.50886C>T (TTN) | ENSP00000352154.5:p.Asp16962= | |
| ENST00000460472.6:c.50511C>T (TTN) | ENSP00000434586.1:p.Asp16837= | |
| ENST00000589042.5:c.77706C>T (TTN) MANE Select | ENSP00000467141.1:p.Asp25902= | |
| ENST00000591111.5:c.72783C>T (TTN) | ENSP00000465570.1:p.Asp24261= | |
| ENST00000615779.4:c.72783C>T (TTN) | ENSP00000483597.1:p.Asp24261= | |
| NM_001256850.1:c.72783C>T (TTN) | NP_001243779.1:p.Asp24261= | |
| NM_001267550.2:c.77706C>T (TTN) MANE Select | NP_001254479.2:p.Asp25902= | |
| NM_003319.4:c.50511C>T (TTN) | NP_003310.4:p.Asp16837= | |
| NM_133378.4:c.70002C>T (TTN) | NP_596869.4:p.Asp23334= | |
| NM_133432.3:c.50886C>T (TTN) | NP_597676.3:p.Asp16962= | |
| NM_133437.4:c.51087C>T (TTN) | NP_597681.4:p.Asp17029= | |
| NR_038271.1:n.447-2874G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-14146G>A (TTN-AS1) | ||
| XM_011511729.1:c.76803C>T (TTN) | XP_011510031.1:p.Asp25601= | |
| XM_011511730.1:c.50697C>T (TTN) | XP_011510032.1:p.Asp16899= | |
| XM_011511731.1:c.50556C>T (TTN) | XP_011510033.1:p.Asp16852= | |
| XM_017004819.1:c.76599C>T (TTN) | XP_016860308.1:p.Asp25533= | |
| XM_017004820.1:c.71997C>T (TTN) | XP_016860309.1:p.Asp23999= | |
| XM_017004821.1:c.71994C>T (TTN) | XP_016860310.1:p.Asp23998= | |
| XM_017004822.1:c.69036C>T (TTN) | XP_016860311.1:p.Asp23012= | |
| XM_017004823.1:c.50652C>T (TTN) | XP_016860312.1:p.Asp16884= | |
| XM_024453094.1:c.72147C>T (TTN) | XP_024308862.1:p.Asp24049= | |
| XM_024453095.1:c.72144C>T (TTN) | XP_024308863.1:p.Asp24048= | |
| XM_024453096.1:c.71577C>T (TTN) | XP_024308864.1:p.Asp23859= | |
| XM_024453097.1:c.68919C>T (TTN) | XP_024308865.1:p.Asp22973= | |
| XM_024453098.1:c.68838C>T (TTN) | XP_024308866.1:p.Asp22946= | |
| XM_024453099.1:c.50601C>T (TTN) | XP_024308867.1:p.Asp16867= | |
| XM_024453100.1:c.40455C>T (TTN) | XP_024308868.1:p.Asp13485= |