Linked Data
ClinVar Variation Id:
404998
ClinVar RCV Id:
RCV000460584
RCV000594780
RCV001129075
RCV001129076
RCV001129077
RCV001129073
RCV001129074
dbSNP Id:
rs776943572
ExAC:
2:179429702 A / T
gnomAD v2:
2-179429702-A-T
gnomAD v3:
2-178564975-A-T
gnomAD v4:
2-178564975-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178564975A>T , CM000664.2:g.178564975A>T | GRCh38 |
| NC_000002.11:g.179429702A>T , CM000664.1:g.179429702A>T | GRCh37 |
| NC_000002.10:g.179137948A>T | NCBI36 |
| NG_011618.3:g.270828T>A , LRG_391:g.270828T>A | |
| NG_051363.1:g.47149A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73453T>A (TTN) | ENSP00000343764.6:p.Tyr24485Asn | |
| ENST00000342175.11:c.54538T>A (TTN) | ENSP00000340554.6:p.Tyr18180Asn | |
| ENST00000359218.10:c.54337T>A (TTN) | ENSP00000352154.5:p.Tyr18113Asn | |
| ENST00000342175.10:c.54538T>A (TTN) | ENSP00000340554.6:p.Tyr18180Asn | |
| ENST00000342992.10:c.73453T>A (TTN) | ENSP00000343764.6:p.Tyr24485Asn | |
| ENST00000359218.9:c.54337T>A (TTN) | ENSP00000352154.5:p.Tyr18113Asn | |
| ENST00000460472.6:c.53962T>A (TTN) | ENSP00000434586.1:p.Tyr17988Asn | |
| ENST00000589042.5:c.81157T>A (TTN) MANE Select | ENSP00000467141.1:p.Tyr27053Asn | |
| ENST00000591111.5:c.76234T>A (TTN) | ENSP00000465570.1:p.Tyr25412Asn | |
| ENST00000615779.4:c.76234T>A (TTN) | ENSP00000483597.1:p.Tyr25412Asn | |
| NM_001256850.1:c.76234T>A (TTN) | NP_001243779.1:p.Tyr25412Asn | |
| NM_001267550.2:c.81157T>A (TTN) MANE Select | NP_001254479.2:p.Tyr27053Asn | |
| NM_003319.4:c.53962T>A (TTN) | NP_003310.4:p.Tyr17988Asn | |
| NM_133378.4:c.73453T>A (TTN) | NP_596869.4:p.Tyr24485Asn | |
| NM_133432.3:c.54337T>A (TTN) | NP_597676.3:p.Tyr18113Asn | |
| NM_133437.4:c.54538T>A (TTN) | NP_597681.4:p.Tyr18180Asn | |
| NR_038271.1:n.447-6325A>T (TTN-AS1) | ||
| NR_038272.1:n.2044-17597A>T (TTN-AS1) | ||
| XM_011511729.1:c.80254T>A (TTN) | XP_011510031.1:p.Tyr26752Asn | |
| XM_011511730.1:c.54148T>A (TTN) | XP_011510032.1:p.Tyr18050Asn | |
| XM_011511731.1:c.54007T>A (TTN) | XP_011510033.1:p.Tyr18003Asn | |
| XM_017004819.1:c.80050T>A (TTN) | XP_016860308.1:p.Tyr26684Asn | |
| XM_017004820.1:c.75448T>A (TTN) | XP_016860309.1:p.Tyr25150Asn | |
| XM_017004821.1:c.75445T>A (TTN) | XP_016860310.1:p.Tyr25149Asn | |
| XM_017004822.1:c.72487T>A (TTN) | XP_016860311.1:p.Tyr24163Asn | |
| XM_017004823.1:c.54103T>A (TTN) | XP_016860312.1:p.Tyr18035Asn | |
| XM_024453094.1:c.75598T>A (TTN) | XP_024308862.1:p.Tyr25200Asn | |
| XM_024453095.1:c.75595T>A (TTN) | XP_024308863.1:p.Tyr25199Asn | |
| XM_024453096.1:c.75028T>A (TTN) | XP_024308864.1:p.Tyr25010Asn | |
| XM_024453097.1:c.72370T>A (TTN) | XP_024308865.1:p.Tyr24124Asn | |
| XM_024453098.1:c.72289T>A (TTN) | XP_024308866.1:p.Tyr24097Asn | |
| XM_024453099.1:c.54052T>A (TTN) | XP_024308867.1:p.Tyr18018Asn | |
| XM_024453100.1:c.43906T>A (TTN) | XP_024308868.1:p.Tyr14636Asn |