Linked Data
ClinVar Variation Id:
203024
dbSNP Id:
rs764561909
ExAC:
2:179408063 C / T
gnomAD v2:
2-179408063-C-T
gnomAD v3:
2-178543336-C-T
gnomAD v4:
2-178543336-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543336C>T , CM000664.2:g.178543336C>T | GRCh38 |
| NC_000002.11:g.179408063C>T , CM000664.1:g.179408063C>T | GRCh37 |
| NC_000002.10:g.179116309C>T | NCBI36 |
| NG_011618.3:g.292467G>A , LRG_391:g.292467G>A | |
| NG_051363.1:g.25510C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88933G>A (TTN) | ENSP00000343764.6:p.Asp29645Asn | |
| ENST00000342175.11:c.70018G>A (TTN) | ENSP00000340554.6:p.Asp23340Asn | |
| ENST00000359218.10:c.69817G>A (TTN) | ENSP00000352154.5:p.Asp23273Asn | |
| ENST00000342175.10:c.70018G>A (TTN) | ENSP00000340554.6:p.Asp23340Asn | |
| ENST00000342992.10:c.88933G>A (TTN) | ENSP00000343764.6:p.Asp29645Asn | |
| ENST00000359218.9:c.69817G>A (TTN) | ENSP00000352154.5:p.Asp23273Asn | |
| ENST00000460472.6:c.69442G>A (TTN) | ENSP00000434586.1:p.Asp23148Asn | |
| ENST00000589042.5:c.96637G>A (TTN) MANE Select | ENSP00000467141.1:p.Asp32213Asn | |
| ENST00000591111.5:c.91714G>A (TTN) | ENSP00000465570.1:p.Asp30572Asn | |
| ENST00000615779.4:c.91714G>A (TTN) | ENSP00000483597.1:p.Asp30572Asn | |
| NM_001256850.1:c.91714G>A (TTN) | NP_001243779.1:p.Asp30572Asn | |
| NM_001267550.2:c.96637G>A (TTN) MANE Select | NP_001254479.2:p.Asp32213Asn | |
| NM_003319.4:c.69442G>A (TTN) | NP_003310.4:p.Asp23148Asn | |
| NM_133378.4:c.88933G>A (TTN) | NP_596869.4:p.Asp29645Asn | |
| NM_133432.3:c.69817G>A (TTN) | NP_597676.3:p.Asp23273Asn | |
| NM_133437.4:c.70018G>A (TTN) | NP_597681.4:p.Asp23340Asn | |
| NR_038271.1:n.446+19700C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+975C>T (TTN-AS1) | ||
| XM_011511729.1:c.95734G>A (TTN) | XP_011510031.1:p.Asp31912Asn | |
| XM_011511730.1:c.69628G>A (TTN) | XP_011510032.1:p.Asp23210Asn | |
| XM_011511731.1:c.69487G>A (TTN) | XP_011510033.1:p.Asp23163Asn | |
| XM_017004819.1:c.95530G>A (TTN) | XP_016860308.1:p.Asp31844Asn | |
| XM_017004820.1:c.90928G>A (TTN) | XP_016860309.1:p.Asp30310Asn | |
| XM_017004821.1:c.90925G>A (TTN) | XP_016860310.1:p.Asp30309Asn | |
| XM_017004822.1:c.87967G>A (TTN) | XP_016860311.1:p.Asp29323Asn | |
| XM_017004823.1:c.69583G>A (TTN) | XP_016860312.1:p.Asp23195Asn | |
| XM_024453094.1:c.91078G>A (TTN) | XP_024308862.1:p.Asp30360Asn | |
| XM_024453095.1:c.91075G>A (TTN) | XP_024308863.1:p.Asp30359Asn | |
| XM_024453096.1:c.90508G>A (TTN) | XP_024308864.1:p.Asp30170Asn | |
| XM_024453097.1:c.87850G>A (TTN) | XP_024308865.1:p.Asp29284Asn | |
| XM_024453098.1:c.87769G>A (TTN) | XP_024308866.1:p.Asp29257Asn | |
| XM_024453099.1:c.69532G>A (TTN) | XP_024308867.1:p.Asp23178Asn | |
| XM_024453100.1:c.59386G>A (TTN) | XP_024308868.1:p.Asp19796Asn |