Linked Data
ClinVar Variation Id:
467378
dbSNP Id:
rs372543748
ExAC:
2:179448395 G / A
gnomAD v2:
2-179448395-G-A
gnomAD v3:
2-178583668-G-A
gnomAD v4:
2-178583668-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178583668G>A , CM000664.2:g.178583668G>A | GRCh38 |
| NC_000002.11:g.179448395G>A , CM000664.1:g.179448395G>A | GRCh37 |
| NC_000002.10:g.179156641G>A | NCBI36 |
| NG_011618.3:g.252135C>T , LRG_391:g.252135C>T | |
| NG_051363.1:g.65842G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57810C>T (TTN) | ENSP00000343764.6:p.Thr19270= | |
| ENST00000342175.11:c.38895C>T (TTN) | ENSP00000340554.6:p.Thr12965= | |
| ENST00000359218.10:c.38694C>T (TTN) | ENSP00000352154.5:p.Thr12898= | |
| ENST00000342175.10:c.38895C>T (TTN) | ENSP00000340554.6:p.Thr12965= | |
| ENST00000342992.10:c.57810C>T (TTN) | ENSP00000343764.6:p.Thr19270= | |
| ENST00000359218.9:c.38694C>T (TTN) | ENSP00000352154.5:p.Thr12898= | |
| ENST00000460472.6:c.38319C>T (TTN) | ENSP00000434586.1:p.Thr12773= | |
| ENST00000589042.5:c.65514C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr21838= | |
| ENST00000591111.5:c.60591C>T (TTN) | ENSP00000465570.1:p.Thr20197= | |
| ENST00000615779.4:c.60591C>T (TTN) | ENSP00000483597.1:p.Thr20197= | |
| NM_001256850.1:c.60591C>T (TTN) | NP_001243779.1:p.Thr20197= | |
| NM_001267550.2:c.65514C>T (TTN) MANE Select | NP_001254479.2:p.Thr21838= | |
| NM_003319.4:c.38319C>T (TTN) | NP_003310.4:p.Thr12773= | |
| NM_133378.4:c.57810C>T (TTN) | NP_596869.4:p.Thr19270= | |
| NM_133432.3:c.38694C>T (TTN) | NP_597676.3:p.Thr12898= | |
| NM_133437.4:c.38895C>T (TTN) | NP_597681.4:p.Thr12965= | |
| NR_038271.1:n.596+12219G>A (TTN-AS1) | ||
| NR_038272.1:n.2514G>A (TTN-AS1) | ||
| XM_011511729.1:c.64611C>T (TTN) | XP_011510031.1:p.Thr21537= | |
| XM_011511730.1:c.38505C>T (TTN) | XP_011510032.1:p.Thr12835= | |
| XM_011511731.1:c.38364C>T (TTN) | XP_011510033.1:p.Thr12788= | |
| XM_017004819.1:c.64407C>T (TTN) | XP_016860308.1:p.Thr21469= | |
| XM_017004820.1:c.59805C>T (TTN) | XP_016860309.1:p.Thr19935= | |
| XM_017004821.1:c.59802C>T (TTN) | XP_016860310.1:p.Thr19934= | |
| XM_017004822.1:c.56844C>T (TTN) | XP_016860311.1:p.Thr18948= | |
| XM_017004823.1:c.38460C>T (TTN) | XP_016860312.1:p.Thr12820= | |
| XM_024453094.1:c.59955C>T (TTN) | XP_024308862.1:p.Thr19985= | |
| XM_024453095.1:c.59952C>T (TTN) | XP_024308863.1:p.Thr19984= | |
| XM_024453096.1:c.59385C>T (TTN) | XP_024308864.1:p.Thr19795= | |
| XM_024453097.1:c.56727C>T (TTN) | XP_024308865.1:p.Thr18909= | |
| XM_024453098.1:c.56646C>T (TTN) | XP_024308866.1:p.Thr18882= | |
| XM_024453099.1:c.38409C>T (TTN) | XP_024308867.1:p.Thr12803= | |
| XM_024453100.1:c.28263C>T (TTN) | XP_024308868.1:p.Thr9421= |