Linked Data
ClinVar Variation Id:
467537
dbSNP Id:
rs373448447
ExAC:
2:179429314 A / T
gnomAD v2:
2-179429314-A-T
gnomAD v3:
2-178564587-A-T
gnomAD v4:
2-178564587-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178564587A>T , CM000664.2:g.178564587A>T | GRCh38 |
| NC_000002.11:g.179429314A>T , CM000664.1:g.179429314A>T | GRCh37 |
| NC_000002.10:g.179137560A>T | NCBI36 |
| NG_011618.3:g.271216T>A , LRG_391:g.271216T>A | |
| NG_051363.1:g.46761A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73841T>A (TTN) | ENSP00000343764.6:p.Ile24614Asn | |
| ENST00000342175.11:c.54926T>A (TTN) | ENSP00000340554.6:p.Ile18309Asn | |
| ENST00000359218.10:c.54725T>A (TTN) | ENSP00000352154.5:p.Ile18242Asn | |
| ENST00000342175.10:c.54926T>A (TTN) | ENSP00000340554.6:p.Ile18309Asn | |
| ENST00000342992.10:c.73841T>A (TTN) | ENSP00000343764.6:p.Ile24614Asn | |
| ENST00000359218.9:c.54725T>A (TTN) | ENSP00000352154.5:p.Ile18242Asn | |
| ENST00000460472.6:c.54350T>A (TTN) | ENSP00000434586.1:p.Ile18117Asn | |
| ENST00000589042.5:c.81545T>A (TTN) MANE Select | ENSP00000467141.1:p.Ile27182Asn | |
| ENST00000591111.5:c.76622T>A (TTN) | ENSP00000465570.1:p.Ile25541Asn | |
| ENST00000615779.4:c.76622T>A (TTN) | ENSP00000483597.1:p.Ile25541Asn | |
| NM_001256850.1:c.76622T>A (TTN) | NP_001243779.1:p.Ile25541Asn | |
| NM_001267550.2:c.81545T>A (TTN) MANE Select | NP_001254479.2:p.Ile27182Asn | |
| NM_003319.4:c.54350T>A (TTN) | NP_003310.4:p.Ile18117Asn | |
| NM_133378.4:c.73841T>A (TTN) | NP_596869.4:p.Ile24614Asn | |
| NM_133432.3:c.54725T>A (TTN) | NP_597676.3:p.Ile18242Asn | |
| NM_133437.4:c.54926T>A (TTN) | NP_597681.4:p.Ile18309Asn | |
| NR_038271.1:n.447-6713A>T (TTN-AS1) | ||
| NR_038272.1:n.2044-17985A>T (TTN-AS1) | ||
| XM_011511729.1:c.80642T>A (TTN) | XP_011510031.1:p.Ile26881Asn | |
| XM_011511730.1:c.54536T>A (TTN) | XP_011510032.1:p.Ile18179Asn | |
| XM_011511731.1:c.54395T>A (TTN) | XP_011510033.1:p.Ile18132Asn | |
| XM_017004819.1:c.80438T>A (TTN) | XP_016860308.1:p.Ile26813Asn | |
| XM_017004820.1:c.75836T>A (TTN) | XP_016860309.1:p.Ile25279Asn | |
| XM_017004821.1:c.75833T>A (TTN) | XP_016860310.1:p.Ile25278Asn | |
| XM_017004822.1:c.72875T>A (TTN) | XP_016860311.1:p.Ile24292Asn | |
| XM_017004823.1:c.54491T>A (TTN) | XP_016860312.1:p.Ile18164Asn | |
| XM_024453094.1:c.75986T>A (TTN) | XP_024308862.1:p.Ile25329Asn | |
| XM_024453095.1:c.75983T>A (TTN) | XP_024308863.1:p.Ile25328Asn | |
| XM_024453096.1:c.75416T>A (TTN) | XP_024308864.1:p.Ile25139Asn | |
| XM_024453097.1:c.72758T>A (TTN) | XP_024308865.1:p.Ile24253Asn | |
| XM_024453098.1:c.72677T>A (TTN) | XP_024308866.1:p.Ile24226Asn | |
| XM_024453099.1:c.54440T>A (TTN) | XP_024308867.1:p.Ile18147Asn | |
| XM_024453100.1:c.44294T>A (TTN) | XP_024308868.1:p.Ile14765Asn |