Linked Data
ClinVar Variation Id:
47191
ClinVar RCV Id:
RCV000040461
RCV000227404
RCV000621228
RCV000769986
RCV001131027
RCV001131029
RCV001079503
RCV001131026
RCV001131028
RCV001131030
dbSNP Id:
rs72646852
ExAC:
2:179453287 C / T
gnomAD v2:
2-179453287-C-T
gnomAD v3:
2-178588560-C-T
gnomAD v4:
2-178588560-C-T
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178588560C>T , CM000664.2:g.178588560C>T | GRCh38 |
| NC_000002.11:g.179453287C>T , CM000664.1:g.179453287C>T | GRCh37 |
| NC_000002.10:g.179161533C>T | NCBI36 |
| NG_011618.3:g.247243G>A , LRG_391:g.247243G>A | |
| NG_051363.1:g.70734C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.55461G>A (TTN) | ENSP00000343764.6:p.Pro18487= | |
| ENST00000342175.11:c.36546G>A (TTN) | ENSP00000340554.6:p.Pro12182= | |
| ENST00000359218.10:c.36345G>A (TTN) | ENSP00000352154.5:p.Pro12115= | |
| ENST00000342175.10:c.36546G>A (TTN) | ENSP00000340554.6:p.Pro12182= | |
| ENST00000342992.10:c.55461G>A (TTN) | ENSP00000343764.6:p.Pro18487= | |
| ENST00000359218.9:c.36345G>A (TTN) | ENSP00000352154.5:p.Pro12115= | |
| ENST00000460472.6:c.35970G>A (TTN) | ENSP00000434586.1:p.Pro11990= | |
| ENST00000589042.5:c.63165G>A (TTN) MANE Select | ENSP00000467141.1:p.Pro21055= | |
| ENST00000591111.5:c.58242G>A (TTN) | ENSP00000465570.1:p.Pro19414= | |
| ENST00000615779.4:c.58242G>A (TTN) | ENSP00000483597.1:p.Pro19414= | |
| NM_001256850.1:c.58242G>A (TTN) | NP_001243779.1:p.Pro19414= | |
| NM_001267550.2:c.63165G>A (TTN) MANE Select | NP_001254479.2:p.Pro21055= | |
| NM_003319.4:c.35970G>A (TTN) | NP_003310.4:p.Pro11990= | |
| NM_133378.4:c.55461G>A (TTN) | NP_596869.4:p.Pro18487= | |
| NM_133432.3:c.36345G>A (TTN) | NP_597676.3:p.Pro12115= | |
| NM_133437.4:c.36546G>A (TTN) | NP_597681.4:p.Pro12182= | |
| NR_038271.1:n.597-9036C>T (TTN-AS1) | ||
| NR_038272.1:n.3189-2579C>T (TTN-AS1) | ||
| XM_011511729.1:c.62262G>A (TTN) | XP_011510031.1:p.Pro20754= | |
| XM_011511730.1:c.36156G>A (TTN) | XP_011510032.1:p.Pro12052= | |
| XM_011511731.1:c.36015G>A (TTN) | XP_011510033.1:p.Pro12005= | |
| XM_017004819.1:c.62058G>A (TTN) | XP_016860308.1:p.Pro20686= | |
| XM_017004820.1:c.57456G>A (TTN) | XP_016860309.1:p.Pro19152= | |
| XM_017004821.1:c.57453G>A (TTN) | XP_016860310.1:p.Pro19151= | |
| XM_017004822.1:c.54495G>A (TTN) | XP_016860311.1:p.Pro18165= | |
| XM_017004823.1:c.36111G>A (TTN) | XP_016860312.1:p.Pro12037= | |
| XM_024453094.1:c.57606G>A (TTN) | XP_024308862.1:p.Pro19202= | |
| XM_024453095.1:c.57603G>A (TTN) | XP_024308863.1:p.Pro19201= | |
| XM_024453096.1:c.57036G>A (TTN) | XP_024308864.1:p.Pro19012= | |
| XM_024453097.1:c.54378G>A (TTN) | XP_024308865.1:p.Pro18126= | |
| XM_024453098.1:c.54297G>A (TTN) | XP_024308866.1:p.Pro18099= | |
| XM_024453099.1:c.36060G>A (TTN) | XP_024308867.1:p.Pro12020= | |
| XM_024453100.1:c.25914G>A (TTN) | XP_024308868.1:p.Pro8638= |