Linked Data
ClinVar Variation Id:
497179
dbSNP Id:
rs746897918
ExAC:
2:179418419 G / A
gnomAD v2:
2-179418419-G-A
gnomAD v3:
2-178553692-G-A
gnomAD v4:
2-178553692-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178553692G>A , CM000664.2:g.178553692G>A | GRCh38 |
| NC_000002.11:g.179418419G>A , CM000664.1:g.179418419G>A | GRCh37 |
| NC_000002.10:g.179126665G>A | NCBI36 |
| NG_011618.3:g.282111C>T , LRG_391:g.282111C>T | |
| NG_051363.1:g.35866G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.81609C>T (TTN) | ENSP00000343764.6:p.Val27203= | |
| ENST00000342175.11:c.62694C>T (TTN) | ENSP00000340554.6:p.Val20898= | |
| ENST00000359218.10:c.62493C>T (TTN) | ENSP00000352154.5:p.Val20831= | |
| ENST00000342175.10:c.62694C>T (TTN) | ENSP00000340554.6:p.Val20898= | |
| ENST00000342992.10:c.81609C>T (TTN) | ENSP00000343764.6:p.Val27203= | |
| ENST00000359218.9:c.62493C>T (TTN) | ENSP00000352154.5:p.Val20831= | |
| ENST00000460472.6:c.62118C>T (TTN) | ENSP00000434586.1:p.Val20706= | |
| ENST00000589042.5:c.89313C>T (TTN) MANE Select | ENSP00000467141.1:p.Val29771= | |
| ENST00000591111.5:c.84390C>T (TTN) | ENSP00000465570.1:p.Val28130= | |
| ENST00000615779.4:c.84390C>T (TTN) | ENSP00000483597.1:p.Val28130= | |
| NM_001256850.1:c.84390C>T (TTN) | NP_001243779.1:p.Val28130= | |
| NM_001267550.2:c.89313C>T (TTN) MANE Select | NP_001254479.2:p.Val29771= | |
| NM_003319.4:c.62118C>T (TTN) | NP_003310.4:p.Val20706= | |
| NM_133378.4:c.81609C>T (TTN) | NP_596869.4:p.Val27203= | |
| NM_133432.3:c.62493C>T (TTN) | NP_597676.3:p.Val20831= | |
| NM_133437.4:c.62694C>T (TTN) | NP_597681.4:p.Val20898= | |
| NR_038271.1:n.447-17608G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+11331G>A (TTN-AS1) | ||
| XM_011511729.1:c.88410C>T (TTN) | XP_011510031.1:p.Val29470= | |
| XM_011511730.1:c.62304C>T (TTN) | XP_011510032.1:p.Val20768= | |
| XM_011511731.1:c.62163C>T (TTN) | XP_011510033.1:p.Val20721= | |
| XM_017004819.1:c.88206C>T (TTN) | XP_016860308.1:p.Val29402= | |
| XM_017004820.1:c.83604C>T (TTN) | XP_016860309.1:p.Val27868= | |
| XM_017004821.1:c.83601C>T (TTN) | XP_016860310.1:p.Val27867= | |
| XM_017004822.1:c.80643C>T (TTN) | XP_016860311.1:p.Val26881= | |
| XM_017004823.1:c.62259C>T (TTN) | XP_016860312.1:p.Val20753= | |
| XM_024453094.1:c.83754C>T (TTN) | XP_024308862.1:p.Val27918= | |
| XM_024453095.1:c.83751C>T (TTN) | XP_024308863.1:p.Val27917= | |
| XM_024453096.1:c.83184C>T (TTN) | XP_024308864.1:p.Val27728= | |
| XM_024453097.1:c.80526C>T (TTN) | XP_024308865.1:p.Val26842= | |
| XM_024453098.1:c.80445C>T (TTN) | XP_024308866.1:p.Val26815= | |
| XM_024453099.1:c.62208C>T (TTN) | XP_024308867.1:p.Val20736= | |
| XM_024453100.1:c.52062C>T (TTN) | XP_024308868.1:p.Val17354= |