Linked Data
ClinVar Variation Id:
47659
ClinVar RCV Id:
RCV000040928
RCV000710275
RCV000768834
RCV001133967
RCV001081893
RCV001133969
RCV001133968
RCV001133970
RCV001135483
RCV002390176
dbSNP Id:
rs72629785
ExAC:
2:179397979 G / A
gnomAD v2:
2-179397979-G-A
gnomAD v3:
2-178533252-G-A
gnomAD v4:
2-178533252-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533252G>A , CM000664.2:g.178533252G>A | GRCh38 |
| NC_000002.11:g.179397979G>A , CM000664.1:g.179397979G>A | GRCh37 |
| NC_000002.10:g.179106225G>A | NCBI36 |
| NG_011618.3:g.302551C>T , LRG_391:g.302551C>T | |
| NG_051363.1:g.15426G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95659C>T (TTN) | ENSP00000343764.6:p.Arg31887Cys | |
| ENST00000342175.11:c.76744C>T (TTN) | ENSP00000340554.6:p.Arg25582Cys | |
| ENST00000359218.10:c.76543C>T (TTN) | ENSP00000352154.5:p.Arg25515Cys | |
| ENST00000342175.10:c.76744C>T (TTN) | ENSP00000340554.6:p.Arg25582Cys | |
| ENST00000342992.10:c.95659C>T (TTN) | ENSP00000343764.6:p.Arg31887Cys | |
| ENST00000359218.9:c.76543C>T (TTN) | ENSP00000352154.5:p.Arg25515Cys | |
| ENST00000460472.6:c.76168C>T (TTN) | ENSP00000434586.1:p.Arg25390Cys | |
| ENST00000589042.5:c.103363C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg34455Cys | |
| ENST00000591111.5:c.98440C>T (TTN) | ENSP00000465570.1:p.Arg32814Cys | |
| ENST00000615779.4:c.98440C>T (TTN) | ENSP00000483597.1:p.Arg32814Cys | |
| NM_001256850.1:c.98440C>T (TTN) | NP_001243779.1:p.Arg32814Cys | |
| NM_001267550.2:c.103363C>T (TTN) MANE Select | NP_001254479.2:p.Arg34455Cys | |
| NM_003319.4:c.76168C>T (TTN) | NP_003310.4:p.Arg25390Cys | |
| NM_133378.4:c.95659C>T (TTN) | NP_596869.4:p.Arg31887Cys | |
| NM_133432.3:c.76543C>T (TTN) | NP_597676.3:p.Arg25515Cys | |
| NM_133437.4:c.76744C>T (TTN) | NP_597681.4:p.Arg25582Cys | |
| NR_038271.1:n.446+9616G>A (TTN-AS1) | ||
| NR_038272.1:n.220-2480G>A (TTN-AS1) | ||
| XM_011511729.1:c.102460C>T (TTN) | XP_011510031.1:p.Arg34154Cys | |
| XM_011511730.1:c.76354C>T (TTN) | XP_011510032.1:p.Arg25452Cys | |
| XM_011511731.1:c.76213C>T (TTN) | XP_011510033.1:p.Arg25405Cys | |
| XM_017004819.1:c.102256C>T (TTN) | XP_016860308.1:p.Arg34086Cys | |
| XM_017004820.1:c.97654C>T (TTN) | XP_016860309.1:p.Arg32552Cys | |
| XM_017004821.1:c.97651C>T (TTN) | XP_016860310.1:p.Arg32551Cys | |
| XM_017004822.1:c.94693C>T (TTN) | XP_016860311.1:p.Arg31565Cys | |
| XM_017004823.1:c.76309C>T (TTN) | XP_016860312.1:p.Arg25437Cys | |
| XM_024453094.1:c.97804C>T (TTN) | XP_024308862.1:p.Arg32602Cys | |
| XM_024453095.1:c.97801C>T (TTN) | XP_024308863.1:p.Arg32601Cys | |
| XM_024453096.1:c.97234C>T (TTN) | XP_024308864.1:p.Arg32412Cys | |
| XM_024453097.1:c.94576C>T (TTN) | XP_024308865.1:p.Arg31526Cys | |
| XM_024453098.1:c.94495C>T (TTN) | XP_024308866.1:p.Arg31499Cys | |
| XM_024453099.1:c.76258C>T (TTN) | XP_024308867.1:p.Arg25420Cys | |
| XM_024453100.1:c.66112C>T (TTN) | XP_024308868.1:p.Arg22038Cys |