Linked Data
ClinVar Variation Id:
196005
dbSNP Id:
rs368924655
ExAC:
2:179446394 C / T
gnomAD v2:
2-179446394-C-T
gnomAD v3:
2-178581667-C-T
gnomAD v4:
2-178581667-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178581667C>T , CM000664.2:g.178581667C>T | GRCh38 |
| NC_000002.11:g.179446394C>T , CM000664.1:g.179446394C>T | GRCh37 |
| NC_000002.10:g.179154640C>T | NCBI36 |
| NG_011618.3:g.254136G>A , LRG_391:g.254136G>A | |
| NG_051363.1:g.63841C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58897G>A (TTN) | ENSP00000343764.6:p.Asp19633Asn | |
| ENST00000342175.11:c.39982G>A (TTN) | ENSP00000340554.6:p.Asp13328Asn | |
| ENST00000359218.10:c.39781G>A (TTN) | ENSP00000352154.5:p.Asp13261Asn | |
| ENST00000342175.10:c.39982G>A (TTN) | ENSP00000340554.6:p.Asp13328Asn | |
| ENST00000342992.10:c.58897G>A (TTN) | ENSP00000343764.6:p.Asp19633Asn | |
| ENST00000359218.9:c.39781G>A (TTN) | ENSP00000352154.5:p.Asp13261Asn | |
| ENST00000460472.6:c.39406G>A (TTN) | ENSP00000434586.1:p.Asp13136Asn | |
| ENST00000589042.5:c.66601G>A (TTN) MANE Select | ENSP00000467141.1:p.Asp22201Asn | |
| ENST00000591111.5:c.61678G>A (TTN) | ENSP00000465570.1:p.Asp20560Asn | |
| ENST00000615779.4:c.61678G>A (TTN) | ENSP00000483597.1:p.Asp20560Asn | |
| NM_001256850.1:c.61678G>A (TTN) | NP_001243779.1:p.Asp20560Asn | |
| NM_001267550.2:c.66601G>A (TTN) MANE Select | NP_001254479.2:p.Asp22201Asn | |
| NM_003319.4:c.39406G>A (TTN) | NP_003310.4:p.Asp13136Asn | |
| NM_133378.4:c.58897G>A (TTN) | NP_596869.4:p.Asp19633Asn | |
| NM_133432.3:c.39781G>A (TTN) | NP_597676.3:p.Asp13261Asn | |
| NM_133437.4:c.39982G>A (TTN) | NP_597681.4:p.Asp13328Asn | |
| NR_038271.1:n.596+10218C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-905C>T (TTN-AS1) | ||
| XM_011511729.1:c.65698G>A (TTN) | XP_011510031.1:p.Asp21900Asn | |
| XM_011511730.1:c.39592G>A (TTN) | XP_011510032.1:p.Asp13198Asn | |
| XM_011511731.1:c.39451G>A (TTN) | XP_011510033.1:p.Asp13151Asn | |
| XM_017004819.1:c.65494G>A (TTN) | XP_016860308.1:p.Asp21832Asn | |
| XM_017004820.1:c.60892G>A (TTN) | XP_016860309.1:p.Asp20298Asn | |
| XM_017004821.1:c.60889G>A (TTN) | XP_016860310.1:p.Asp20297Asn | |
| XM_017004822.1:c.57931G>A (TTN) | XP_016860311.1:p.Asp19311Asn | |
| XM_017004823.1:c.39547G>A (TTN) | XP_016860312.1:p.Asp13183Asn | |
| XM_024453094.1:c.61042G>A (TTN) | XP_024308862.1:p.Asp20348Asn | |
| XM_024453095.1:c.61039G>A (TTN) | XP_024308863.1:p.Asp20347Asn | |
| XM_024453096.1:c.60472G>A (TTN) | XP_024308864.1:p.Asp20158Asn | |
| XM_024453097.1:c.57814G>A (TTN) | XP_024308865.1:p.Asp19272Asn | |
| XM_024453098.1:c.57733G>A (TTN) | XP_024308866.1:p.Asp19245Asn | |
| XM_024453099.1:c.39496G>A (TTN) | XP_024308867.1:p.Asp13166Asn | |
| XM_024453100.1:c.29350G>A (TTN) | XP_024308868.1:p.Asp9784Asn |