Linked Data
ClinVar Variation Id:
47465
ClinVar RCV Id:
RCV000040734
RCV000225888
RCV000244493
RCV000726191
RCV001129285
RCV001136274
RCV001136271
RCV001136272
RCV001136273
RCV001798190
dbSNP Id:
rs201831707
ExAC:
2:179422458 T / A
gnomAD v2:
2-179422458-T-A
gnomAD v3:
2-178557731-T-A
gnomAD v4:
2-178557731-T-A
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557731T>A , CM000664.2:g.178557731T>A | GRCh38 |
| NC_000002.11:g.179422458T>A , CM000664.1:g.179422458T>A | GRCh37 |
| NC_000002.10:g.179130704T>A | NCBI36 |
| NG_011618.3:g.278072A>T , LRG_391:g.278072A>T | |
| NG_051363.1:g.39905T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79919A>T (TTN) | ENSP00000343764.6:p.Tyr26640Phe | |
| ENST00000342175.11:c.61004A>T (TTN) | ENSP00000340554.6:p.Tyr20335Phe | |
| ENST00000359218.10:c.60803A>T (TTN) | ENSP00000352154.5:p.Tyr20268Phe | |
| ENST00000342175.10:c.61004A>T (TTN) | ENSP00000340554.6:p.Tyr20335Phe | |
| ENST00000342992.10:c.79919A>T (TTN) | ENSP00000343764.6:p.Tyr26640Phe | |
| ENST00000359218.9:c.60803A>T (TTN) | ENSP00000352154.5:p.Tyr20268Phe | |
| ENST00000460472.6:c.60428A>T (TTN) | ENSP00000434586.1:p.Tyr20143Phe | |
| ENST00000589042.5:c.87623A>T (TTN) MANE Select | ENSP00000467141.1:p.Tyr29208Phe | |
| ENST00000591111.5:c.82700A>T (TTN) | ENSP00000465570.1:p.Tyr27567Phe | |
| ENST00000615779.4:c.82700A>T (TTN) | ENSP00000483597.1:p.Tyr27567Phe | |
| NM_001256850.1:c.82700A>T (TTN) | NP_001243779.1:p.Tyr27567Phe | |
| NM_001267550.2:c.87623A>T (TTN) MANE Select | NP_001254479.2:p.Tyr29208Phe | |
| NM_003319.4:c.60428A>T (TTN) | NP_003310.4:p.Tyr20143Phe | |
| NM_133378.4:c.79919A>T (TTN) | NP_596869.4:p.Tyr26640Phe | |
| NM_133432.3:c.60803A>T (TTN) | NP_597676.3:p.Tyr20268Phe | |
| NM_133437.4:c.61004A>T (TTN) | NP_597681.4:p.Tyr20335Phe | |
| NR_038271.1:n.447-13569T>A (TTN-AS1) | ||
| NR_038272.1:n.2043+15370T>A (TTN-AS1) | ||
| XM_011511729.1:c.86720A>T (TTN) | XP_011510031.1:p.Tyr28907Phe | |
| XM_011511730.1:c.60614A>T (TTN) | XP_011510032.1:p.Tyr20205Phe | |
| XM_011511731.1:c.60473A>T (TTN) | XP_011510033.1:p.Tyr20158Phe | |
| XM_017004819.1:c.86516A>T (TTN) | XP_016860308.1:p.Tyr28839Phe | |
| XM_017004820.1:c.81914A>T (TTN) | XP_016860309.1:p.Tyr27305Phe | |
| XM_017004821.1:c.81911A>T (TTN) | XP_016860310.1:p.Tyr27304Phe | |
| XM_017004822.1:c.78953A>T (TTN) | XP_016860311.1:p.Tyr26318Phe | |
| XM_017004823.1:c.60569A>T (TTN) | XP_016860312.1:p.Tyr20190Phe | |
| XM_024453094.1:c.82064A>T (TTN) | XP_024308862.1:p.Tyr27355Phe | |
| XM_024453095.1:c.82061A>T (TTN) | XP_024308863.1:p.Tyr27354Phe | |
| XM_024453096.1:c.81494A>T (TTN) | XP_024308864.1:p.Tyr27165Phe | |
| XM_024453097.1:c.78836A>T (TTN) | XP_024308865.1:p.Tyr26279Phe | |
| XM_024453098.1:c.78755A>T (TTN) | XP_024308866.1:p.Tyr26252Phe | |
| XM_024453099.1:c.60518A>T (TTN) | XP_024308867.1:p.Tyr20173Phe | |
| XM_024453100.1:c.50372A>T (TTN) | XP_024308868.1:p.Tyr16791Phe |