Linked Data
ClinVar Variation Id:
264517
dbSNP Id:
rs751746401
ExAC:
2:179482584 G / A
gnomAD v2:
2-179482584-G-A
gnomAD v3:
2-178617857-G-A
gnomAD v4:
2-178617857-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178617857G>A , CM000664.2:g.178617857G>A | GRCh38 |
| NC_000002.11:g.179482584G>A , CM000664.1:g.179482584G>A | GRCh37 |
| NC_000002.10:g.179190829G>A | NCBI36 |
| NG_011618.3:g.217946C>T , LRG_391:g.217946C>T | |
| NG_051363.1:g.100031G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39790C>T (TTN) | ENSP00000343764.6:p.Arg13264Ter | |
| ENST00000342175.11:c.20875C>T (TTN) | ENSP00000340554.6:p.Arg6959Ter | |
| ENST00000359218.10:c.20674C>T (TTN) | ENSP00000352154.5:p.Arg6892Ter | |
| ENST00000342175.10:c.20875C>T (TTN) | ENSP00000340554.6:p.Arg6959Ter | |
| ENST00000342992.10:c.39790C>T (TTN) | ENSP00000343764.6:p.Arg13264Ter | |
| ENST00000359218.9:c.20674C>T (TTN) | ENSP00000352154.5:p.Arg6892Ter | |
| ENST00000460472.6:c.20299C>T (TTN) | ENSP00000434586.1:p.Arg6767Ter | |
| ENST00000589042.5:c.47494C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg15832Ter | |
| ENST00000591111.5:c.42571C>T (TTN) | ENSP00000465570.1:p.Arg14191Ter | |
| ENST00000615779.4:c.42571C>T (TTN) | ENSP00000483597.1:p.Arg14191Ter | |
| NM_001256850.1:c.42571C>T (TTN) | NP_001243779.1:p.Arg14191Ter | |
| NM_001267550.2:c.47494C>T (TTN) MANE Select | NP_001254479.2:p.Arg15832Ter | |
| NM_003319.4:c.20299C>T (TTN) | NP_003310.4:p.Arg6767Ter | |
| NM_133378.4:c.39790C>T (TTN) | NP_596869.4:p.Arg13264Ter | |
| NM_133432.3:c.20674C>T (TTN) | NP_597676.3:p.Arg6892Ter | |
| NM_133437.4:c.20875C>T (TTN) | NP_597681.4:p.Arg6959Ter | |
| NR_038271.1:n.1605-1896G>A (TTN-AS1) | ||
| XM_011511729.1:c.46591C>T (TTN) | XP_011510031.1:p.Arg15531Ter | |
| XM_011511730.1:c.20485C>T (TTN) | XP_011510032.1:p.Arg6829Ter | |
| XM_011511731.1:c.20344C>T (TTN) | XP_011510033.1:p.Arg6782Ter | |
| XM_017004819.1:c.46387C>T (TTN) | XP_016860308.1:p.Arg15463Ter | |
| XM_017004820.1:c.41785C>T (TTN) | XP_016860309.1:p.Arg13929Ter | |
| XM_017004821.1:c.41782C>T (TTN) | XP_016860310.1:p.Arg13928Ter | |
| XM_017004822.1:c.38824C>T (TTN) | XP_016860311.1:p.Arg12942Ter | |
| XM_017004823.1:c.20440C>T (TTN) | XP_016860312.1:p.Arg6814Ter | |
| XM_024453094.1:c.41935C>T (TTN) | XP_024308862.1:p.Arg13979Ter | |
| XM_024453095.1:c.41932C>T (TTN) | XP_024308863.1:p.Arg13978Ter | |
| XM_024453096.1:c.41365C>T (TTN) | XP_024308864.1:p.Arg13789Ter | |
| XM_024453097.1:c.38707C>T (TTN) | XP_024308865.1:p.Arg12903Ter | |
| XM_024453098.1:c.38626C>T (TTN) | XP_024308866.1:p.Arg12876Ter | |
| XM_024453099.1:c.20389C>T (TTN) | XP_024308867.1:p.Arg6797Ter | |
| XM_024453100.1:c.10243C>T (TTN) | XP_024308868.1:p.Arg3415Ter |