Linked Data
ClinVar Variation Id:
229490
ClinVar RCV Id:
RCV000218631
RCV000462337
RCV001136495
RCV001136496
RCV001136497
RCV001136498
RCV001136499
RCV001705205
RCV002354613
dbSNP Id:
rs374858668
ExAC:
2:179448335 A / G
gnomAD v2:
2-179448335-A-G
gnomAD v3:
2-178583608-A-G
gnomAD v4:
2-178583608-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178583608A>G , CM000664.2:g.178583608A>G | GRCh38 |
| NC_000002.11:g.179448335A>G , CM000664.1:g.179448335A>G | GRCh37 |
| NC_000002.10:g.179156581A>G | NCBI36 |
| NG_011618.3:g.252195T>C , LRG_391:g.252195T>C | |
| NG_051363.1:g.65782A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57870T>C (TTN) | ENSP00000343764.6:p.Asn19290= | |
| ENST00000342175.11:c.38955T>C (TTN) | ENSP00000340554.6:p.Asn12985= | |
| ENST00000359218.10:c.38754T>C (TTN) | ENSP00000352154.5:p.Asn12918= | |
| ENST00000342175.10:c.38955T>C (TTN) | ENSP00000340554.6:p.Asn12985= | |
| ENST00000342992.10:c.57870T>C (TTN) | ENSP00000343764.6:p.Asn19290= | |
| ENST00000359218.9:c.38754T>C (TTN) | ENSP00000352154.5:p.Asn12918= | |
| ENST00000460472.6:c.38379T>C (TTN) | ENSP00000434586.1:p.Asn12793= | |
| ENST00000589042.5:c.65574T>C (TTN) MANE Select | ENSP00000467141.1:p.Asn21858= | |
| ENST00000591111.5:c.60651T>C (TTN) | ENSP00000465570.1:p.Asn20217= | |
| ENST00000615779.4:c.60651T>C (TTN) | ENSP00000483597.1:p.Asn20217= | |
| NM_001256850.1:c.60651T>C (TTN) | NP_001243779.1:p.Asn20217= | |
| NM_001267550.2:c.65574T>C (TTN) MANE Select | NP_001254479.2:p.Asn21858= | |
| NM_003319.4:c.38379T>C (TTN) | NP_003310.4:p.Asn12793= | |
| NM_133378.4:c.57870T>C (TTN) | NP_596869.4:p.Asn19290= | |
| NM_133432.3:c.38754T>C (TTN) | NP_597676.3:p.Asn12918= | |
| NM_133437.4:c.38955T>C (TTN) | NP_597681.4:p.Asn12985= | |
| NR_038271.1:n.596+12159A>G (TTN-AS1) | ||
| NR_038272.1:n.2454A>G (TTN-AS1) | ||
| XM_011511729.1:c.64671T>C (TTN) | XP_011510031.1:p.Asn21557= | |
| XM_011511730.1:c.38565T>C (TTN) | XP_011510032.1:p.Asn12855= | |
| XM_011511731.1:c.38424T>C (TTN) | XP_011510033.1:p.Asn12808= | |
| XM_017004819.1:c.64467T>C (TTN) | XP_016860308.1:p.Asn21489= | |
| XM_017004820.1:c.59865T>C (TTN) | XP_016860309.1:p.Asn19955= | |
| XM_017004821.1:c.59862T>C (TTN) | XP_016860310.1:p.Asn19954= | |
| XM_017004822.1:c.56904T>C (TTN) | XP_016860311.1:p.Asn18968= | |
| XM_017004823.1:c.38520T>C (TTN) | XP_016860312.1:p.Asn12840= | |
| XM_024453094.1:c.60015T>C (TTN) | XP_024308862.1:p.Asn20005= | |
| XM_024453095.1:c.60012T>C (TTN) | XP_024308863.1:p.Asn20004= | |
| XM_024453096.1:c.59445T>C (TTN) | XP_024308864.1:p.Asn19815= | |
| XM_024453097.1:c.56787T>C (TTN) | XP_024308865.1:p.Asn18929= | |
| XM_024453098.1:c.56706T>C (TTN) | XP_024308866.1:p.Asn18902= | |
| XM_024453099.1:c.38469T>C (TTN) | XP_024308867.1:p.Asn12823= | |
| XM_024453100.1:c.28323T>C (TTN) | XP_024308868.1:p.Asn9441= |