Linked Data
ClinVar Variation Id:
432196
dbSNP Id:
rs768073446
ExAC:
2:179458925 G / A
gnomAD v2:
2-179458925-G-A
gnomAD v4:
2-178594198-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178594198G>A , CM000664.2:g.178594198G>A | GRCh38 |
| NC_000002.11:g.179458925G>A , CM000664.1:g.179458925G>A | GRCh37 |
| NC_000002.10:g.179167171G>A | NCBI36 |
| NG_011618.3:g.241605C>T , LRG_391:g.241605C>T | |
| NG_051363.1:g.76372G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.50491C>T (TTN) | ENSP00000343764.6:p.Arg16831Ter | |
| ENST00000342175.11:c.31576C>T (TTN) | ENSP00000340554.6:p.Arg10526Ter | |
| ENST00000359218.10:c.31375C>T (TTN) | ENSP00000352154.5:p.Arg10459Ter | |
| ENST00000342175.10:c.31576C>T (TTN) | ENSP00000340554.6:p.Arg10526Ter | |
| ENST00000342992.10:c.50491C>T (TTN) | ENSP00000343764.6:p.Arg16831Ter | |
| ENST00000359218.9:c.31375C>T (TTN) | ENSP00000352154.5:p.Arg10459Ter | |
| ENST00000460472.6:c.31000C>T (TTN) | ENSP00000434586.1:p.Arg10334Ter | |
| ENST00000589042.5:c.58195C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg19399Ter | |
| ENST00000591111.5:c.53272C>T (TTN) | ENSP00000465570.1:p.Arg17758Ter | |
| ENST00000615779.4:c.53272C>T (TTN) | ENSP00000483597.1:p.Arg17758Ter | |
| NM_001256850.1:c.53272C>T (TTN) | NP_001243779.1:p.Arg17758Ter | |
| NM_001267550.2:c.58195C>T (TTN) MANE Select | NP_001254479.2:p.Arg19399Ter | |
| NM_003319.4:c.31000C>T (TTN) | NP_003310.4:p.Arg10334Ter | |
| NM_133378.4:c.50491C>T (TTN) | NP_596869.4:p.Arg16831Ter | |
| NM_133432.3:c.31375C>T (TTN) | NP_597676.3:p.Arg10459Ter | |
| NM_133437.4:c.31576C>T (TTN) | NP_597681.4:p.Arg10526Ter | |
| NR_038271.1:n.597-3398G>A (TTN-AS1) | ||
| NR_038272.1:n.3364+2884G>A (TTN-AS1) | ||
| XM_011511729.1:c.57292C>T (TTN) | XP_011510031.1:p.Arg19098Ter | |
| XM_011511730.1:c.31186C>T (TTN) | XP_011510032.1:p.Arg10396Ter | |
| XM_011511731.1:c.31045C>T (TTN) | XP_011510033.1:p.Arg10349Ter | |
| XM_017004819.1:c.57088C>T (TTN) | XP_016860308.1:p.Arg19030Ter | |
| XM_017004820.1:c.52486C>T (TTN) | XP_016860309.1:p.Arg17496Ter | |
| XM_017004821.1:c.52483C>T (TTN) | XP_016860310.1:p.Arg17495Ter | |
| XM_017004822.1:c.49525C>T (TTN) | XP_016860311.1:p.Arg16509Ter | |
| XM_017004823.1:c.31141C>T (TTN) | XP_016860312.1:p.Arg10381Ter | |
| XM_024453094.1:c.52636C>T (TTN) | XP_024308862.1:p.Arg17546Ter | |
| XM_024453095.1:c.52633C>T (TTN) | XP_024308863.1:p.Arg17545Ter | |
| XM_024453096.1:c.52066C>T (TTN) | XP_024308864.1:p.Arg17356Ter | |
| XM_024453097.1:c.49408C>T (TTN) | XP_024308865.1:p.Arg16470Ter | |
| XM_024453098.1:c.49327C>T (TTN) | XP_024308866.1:p.Arg16443Ter | |
| XM_024453099.1:c.31090C>T (TTN) | XP_024308867.1:p.Arg10364Ter | |
| XM_024453100.1:c.20944C>T (TTN) | XP_024308868.1:p.Arg6982Ter |