Linked Data
ClinVar Variation Id:
535214
dbSNP Id:
rs757300589
ExAC:
2:179422231 C / T
gnomAD v2:
2-179422231-C-T
gnomAD v3:
2-178557504-C-T
gnomAD v4:
2-178557504-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557504C>T , CM000664.2:g.178557504C>T | GRCh38 |
| NC_000002.11:g.179422231C>T , CM000664.1:g.179422231C>T | GRCh37 |
| NC_000002.10:g.179130477C>T | NCBI36 |
| NG_011618.3:g.278299G>A , LRG_391:g.278299G>A | |
| NG_051363.1:g.39678C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80054G>A (TTN) | ENSP00000343764.6:p.Ser26685Asn | |
| ENST00000342175.11:c.61139G>A (TTN) | ENSP00000340554.6:p.Ser20380Asn | |
| ENST00000359218.10:c.60938G>A (TTN) | ENSP00000352154.5:p.Ser20313Asn | |
| ENST00000342175.10:c.61139G>A (TTN) | ENSP00000340554.6:p.Ser20380Asn | |
| ENST00000342992.10:c.80054G>A (TTN) | ENSP00000343764.6:p.Ser26685Asn | |
| ENST00000359218.9:c.60938G>A (TTN) | ENSP00000352154.5:p.Ser20313Asn | |
| ENST00000460472.6:c.60563G>A (TTN) | ENSP00000434586.1:p.Ser20188Asn | |
| ENST00000589042.5:c.87758G>A (TTN) MANE Select | ENSP00000467141.1:p.Ser29253Asn | |
| ENST00000591111.5:c.82835G>A (TTN) | ENSP00000465570.1:p.Ser27612Asn | |
| ENST00000615779.4:c.82835G>A (TTN) | ENSP00000483597.1:p.Ser27612Asn | |
| NM_001256850.1:c.82835G>A (TTN) | NP_001243779.1:p.Ser27612Asn | |
| NM_001267550.2:c.87758G>A (TTN) MANE Select | NP_001254479.2:p.Ser29253Asn | |
| NM_003319.4:c.60563G>A (TTN) | NP_003310.4:p.Ser20188Asn | |
| NM_133378.4:c.80054G>A (TTN) | NP_596869.4:p.Ser26685Asn | |
| NM_133432.3:c.60938G>A (TTN) | NP_597676.3:p.Ser20313Asn | |
| NM_133437.4:c.61139G>A (TTN) | NP_597681.4:p.Ser20380Asn | |
| NR_038271.1:n.447-13796C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+15143C>T (TTN-AS1) | ||
| XM_011511729.1:c.86855G>A (TTN) | XP_011510031.1:p.Ser28952Asn | |
| XM_011511730.1:c.60749G>A (TTN) | XP_011510032.1:p.Ser20250Asn | |
| XM_011511731.1:c.60608G>A (TTN) | XP_011510033.1:p.Ser20203Asn | |
| XM_017004819.1:c.86651G>A (TTN) | XP_016860308.1:p.Ser28884Asn | |
| XM_017004820.1:c.82049G>A (TTN) | XP_016860309.1:p.Ser27350Asn | |
| XM_017004821.1:c.82046G>A (TTN) | XP_016860310.1:p.Ser27349Asn | |
| XM_017004822.1:c.79088G>A (TTN) | XP_016860311.1:p.Ser26363Asn | |
| XM_017004823.1:c.60704G>A (TTN) | XP_016860312.1:p.Ser20235Asn | |
| XM_024453094.1:c.82199G>A (TTN) | XP_024308862.1:p.Ser27400Asn | |
| XM_024453095.1:c.82196G>A (TTN) | XP_024308863.1:p.Ser27399Asn | |
| XM_024453096.1:c.81629G>A (TTN) | XP_024308864.1:p.Ser27210Asn | |
| XM_024453097.1:c.78971G>A (TTN) | XP_024308865.1:p.Ser26324Asn | |
| XM_024453098.1:c.78890G>A (TTN) | XP_024308866.1:p.Ser26297Asn | |
| XM_024453099.1:c.60653G>A (TTN) | XP_024308867.1:p.Ser20218Asn | |
| XM_024453100.1:c.50507G>A (TTN) | XP_024308868.1:p.Ser16836Asn |