Linked Data
ClinVar Variation Id:
238788
dbSNP Id:
rs771120250
ExAC:
2:179480211 G / A
gnomAD v2:
2-179480211-G-A
gnomAD v3:
2-178615484-G-A
gnomAD v4:
2-178615484-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178615484G>A , CM000664.2:g.178615484G>A | GRCh38 |
| NC_000002.11:g.179480211G>A , CM000664.1:g.179480211G>A | GRCh37 |
| NC_000002.10:g.179188456G>A | NCBI36 |
| NG_011618.3:g.220319C>T , LRG_391:g.220319C>T | |
| NG_051363.1:g.97658G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40757C>T (TTN) | ENSP00000343764.6:p.Thr13586Met | |
| ENST00000342175.11:c.21842C>T (TTN) | ENSP00000340554.6:p.Thr7281Met | |
| ENST00000359218.10:c.21641C>T (TTN) | ENSP00000352154.5:p.Thr7214Met | |
| ENST00000342175.10:c.21842C>T (TTN) | ENSP00000340554.6:p.Thr7281Met | |
| ENST00000342992.10:c.40757C>T (TTN) | ENSP00000343764.6:p.Thr13586Met | |
| ENST00000359218.9:c.21641C>T (TTN) | ENSP00000352154.5:p.Thr7214Met | |
| ENST00000460472.6:c.21266C>T (TTN) | ENSP00000434586.1:p.Thr7089Met | |
| ENST00000589042.5:c.48461C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr16154Met | |
| ENST00000591111.5:c.43538C>T (TTN) | ENSP00000465570.1:p.Thr14513Met | |
| ENST00000615779.4:c.43538C>T (TTN) | ENSP00000483597.1:p.Thr14513Met | |
| NM_001256850.1:c.43538C>T (TTN) | NP_001243779.1:p.Thr14513Met | |
| NM_001267550.2:c.48461C>T (TTN) MANE Select | NP_001254479.2:p.Thr16154Met | |
| NM_003319.4:c.21266C>T (TTN) | NP_003310.4:p.Thr7089Met | |
| NM_133378.4:c.40757C>T (TTN) | NP_596869.4:p.Thr13586Met | |
| NM_133432.3:c.21641C>T (TTN) | NP_597676.3:p.Thr7214Met | |
| NM_133437.4:c.21842C>T (TTN) | NP_597681.4:p.Thr7281Met | |
| NR_038271.1:n.1604+110G>A (TTN-AS1) | ||
| XM_011511729.1:c.47558C>T (TTN) | XP_011510031.1:p.Thr15853Met | |
| XM_011511730.1:c.21452C>T (TTN) | XP_011510032.1:p.Thr7151Met | |
| XM_011511731.1:c.21311C>T (TTN) | XP_011510033.1:p.Thr7104Met | |
| XM_017004819.1:c.47354C>T (TTN) | XP_016860308.1:p.Thr15785Met | |
| XM_017004820.1:c.42752C>T (TTN) | XP_016860309.1:p.Thr14251Met | |
| XM_017004821.1:c.42749C>T (TTN) | XP_016860310.1:p.Thr14250Met | |
| XM_017004822.1:c.39791C>T (TTN) | XP_016860311.1:p.Thr13264Met | |
| XM_017004823.1:c.21407C>T (TTN) | XP_016860312.1:p.Thr7136Met | |
| XM_024453094.1:c.42902C>T (TTN) | XP_024308862.1:p.Thr14301Met | |
| XM_024453095.1:c.42899C>T (TTN) | XP_024308863.1:p.Thr14300Met | |
| XM_024453096.1:c.42332C>T (TTN) | XP_024308864.1:p.Thr14111Met | |
| XM_024453097.1:c.39674C>T (TTN) | XP_024308865.1:p.Thr13225Met | |
| XM_024453098.1:c.39593C>T (TTN) | XP_024308866.1:p.Thr13198Met | |
| XM_024453099.1:c.21356C>T (TTN) | XP_024308867.1:p.Thr7119Met | |
| XM_024453100.1:c.11210C>T (TTN) | XP_024308868.1:p.Thr3737Met |