Linked Data
ClinVar Variation Id:
202834
dbSNP Id:
rs771783837
ExAC:
2:179439235 G / T
gnomAD v2:
2-179439235-G-T
gnomAD v3:
2-178574508-G-T
gnomAD v4:
2-178574508-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178574508G>T , CM000664.2:g.178574508G>T | GRCh38 |
| NC_000002.11:g.179439235G>T , CM000664.1:g.179439235G>T | GRCh37 |
| NC_000002.10:g.179147481G>T | NCBI36 |
| NG_011618.3:g.261295C>A , LRG_391:g.261295C>A | |
| NG_051363.1:g.56682G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.63920C>A (TTN) | ENSP00000343764.6:p.Thr21307Asn | |
| ENST00000342175.11:c.45005C>A (TTN) | ENSP00000340554.6:p.Thr15002Asn | |
| ENST00000359218.10:c.44804C>A (TTN) | ENSP00000352154.5:p.Thr14935Asn | |
| ENST00000342175.10:c.45005C>A (TTN) | ENSP00000340554.6:p.Thr15002Asn | |
| ENST00000342992.10:c.63920C>A (TTN) | ENSP00000343764.6:p.Thr21307Asn | |
| ENST00000359218.9:c.44804C>A (TTN) | ENSP00000352154.5:p.Thr14935Asn | |
| ENST00000460472.6:c.44429C>A (TTN) | ENSP00000434586.1:p.Thr14810Asn | |
| ENST00000589042.5:c.71624C>A (TTN) MANE Select | ENSP00000467141.1:p.Thr23875Asn | |
| ENST00000591111.5:c.66701C>A (TTN) | ENSP00000465570.1:p.Thr22234Asn | |
| ENST00000615779.4:c.66701C>A (TTN) | ENSP00000483597.1:p.Thr22234Asn | |
| NM_001256850.1:c.66701C>A (TTN) | NP_001243779.1:p.Thr22234Asn | |
| NM_001267550.2:c.71624C>A (TTN) MANE Select | NP_001254479.2:p.Thr23875Asn | |
| NM_003319.4:c.44429C>A (TTN) | NP_003310.4:p.Thr14810Asn | |
| NM_133378.4:c.63920C>A (TTN) | NP_596869.4:p.Thr21307Asn | |
| NM_133432.3:c.44804C>A (TTN) | NP_597676.3:p.Thr14935Asn | |
| NM_133437.4:c.45005C>A (TTN) | NP_597681.4:p.Thr15002Asn | |
| NR_038271.1:n.596+3059G>T (TTN-AS1) | ||
| NR_038272.1:n.2044-8064G>T (TTN-AS1) | ||
| XM_011511729.1:c.70721C>A (TTN) | XP_011510031.1:p.Thr23574Asn | |
| XM_011511730.1:c.44615C>A (TTN) | XP_011510032.1:p.Thr14872Asn | |
| XM_011511731.1:c.44474C>A (TTN) | XP_011510033.1:p.Thr14825Asn | |
| XM_017004819.1:c.70517C>A (TTN) | XP_016860308.1:p.Thr23506Asn | |
| XM_017004820.1:c.65915C>A (TTN) | XP_016860309.1:p.Thr21972Asn | |
| XM_017004821.1:c.65912C>A (TTN) | XP_016860310.1:p.Thr21971Asn | |
| XM_017004822.1:c.62954C>A (TTN) | XP_016860311.1:p.Thr20985Asn | |
| XM_017004823.1:c.44570C>A (TTN) | XP_016860312.1:p.Thr14857Asn | |
| XM_024453094.1:c.66065C>A (TTN) | XP_024308862.1:p.Thr22022Asn | |
| XM_024453095.1:c.66062C>A (TTN) | XP_024308863.1:p.Thr22021Asn | |
| XM_024453096.1:c.65495C>A (TTN) | XP_024308864.1:p.Thr21832Asn | |
| XM_024453097.1:c.62837C>A (TTN) | XP_024308865.1:p.Thr20946Asn | |
| XM_024453098.1:c.62756C>A (TTN) | XP_024308866.1:p.Thr20919Asn | |
| XM_024453099.1:c.44519C>A (TTN) | XP_024308867.1:p.Thr14840Asn | |
| XM_024453100.1:c.34373C>A (TTN) | XP_024308868.1:p.Thr11458Asn |