Linked Data
ClinVar Variation Id:
288519
ClinVar RCV Id:
RCV001135235
RCV001135236
RCV001135237
RCV001135238
RCV002436123
RCV001083781
RCV001130202
RCV000260611
dbSNP Id:
rs370998052
ExAC:
2:179463494 C / T
gnomAD v2:
2-179463494-C-T
gnomAD v3:
2-178598767-C-T
gnomAD v4:
2-178598767-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178598767C>T , CM000664.2:g.178598767C>T | GRCh38 |
| NC_000002.11:g.179463494C>T , CM000664.1:g.179463494C>T | GRCh37 |
| NC_000002.10:g.179171739C>T | NCBI36 |
| NG_011618.3:g.237036G>A , LRG_391:g.237036G>A | |
| NG_051363.1:g.80941C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49239G>A (TTN) | ENSP00000343764.6:p.Ala16413= | |
| ENST00000342175.11:c.30324G>A (TTN) | ENSP00000340554.6:p.Ala10108= | |
| ENST00000359218.10:c.30123G>A (TTN) | ENSP00000352154.5:p.Ala10041= | |
| ENST00000342175.10:c.30324G>A (TTN) | ENSP00000340554.6:p.Ala10108= | |
| ENST00000342992.10:c.49239G>A (TTN) | ENSP00000343764.6:p.Ala16413= | |
| ENST00000359218.9:c.30123G>A (TTN) | ENSP00000352154.5:p.Ala10041= | |
| ENST00000460472.6:c.29748G>A (TTN) | ENSP00000434586.1:p.Ala9916= | |
| ENST00000589042.5:c.56943G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala18981= | |
| ENST00000591111.5:c.52020G>A (TTN) | ENSP00000465570.1:p.Ala17340= | |
| ENST00000615779.4:c.52020G>A (TTN) | ENSP00000483597.1:p.Ala17340= | |
| NM_001256850.1:c.52020G>A (TTN) | NP_001243779.1:p.Ala17340= | |
| NM_001267550.2:c.56943G>A (TTN) MANE Select | NP_001254479.2:p.Ala18981= | |
| NM_003319.4:c.29748G>A (TTN) | NP_003310.4:p.Ala9916= | |
| NM_133378.4:c.49239G>A (TTN) | NP_596869.4:p.Ala16413= | |
| NM_133432.3:c.30123G>A (TTN) | NP_597676.3:p.Ala10041= | |
| NM_133437.4:c.30324G>A (TTN) | NP_597681.4:p.Ala10108= | |
| NR_038271.1:n.682+1086C>T (TTN-AS1) | ||
| NR_038272.1:n.3568+94C>T (TTN-AS1) | ||
| XM_011511729.1:c.56040G>A (TTN) | XP_011510031.1:p.Ala18680= | |
| XM_011511730.1:c.29934G>A (TTN) | XP_011510032.1:p.Ala9978= | |
| XM_011511731.1:c.29793G>A (TTN) | XP_011510033.1:p.Ala9931= | |
| XM_017004819.1:c.55836G>A (TTN) | XP_016860308.1:p.Ala18612= | |
| XM_017004820.1:c.51234G>A (TTN) | XP_016860309.1:p.Ala17078= | |
| XM_017004821.1:c.51231G>A (TTN) | XP_016860310.1:p.Ala17077= | |
| XM_017004822.1:c.48273G>A (TTN) | XP_016860311.1:p.Ala16091= | |
| XM_017004823.1:c.29889G>A (TTN) | XP_016860312.1:p.Ala9963= | |
| XM_024453094.1:c.51384G>A (TTN) | XP_024308862.1:p.Ala17128= | |
| XM_024453095.1:c.51381G>A (TTN) | XP_024308863.1:p.Ala17127= | |
| XM_024453096.1:c.50814G>A (TTN) | XP_024308864.1:p.Ala16938= | |
| XM_024453097.1:c.48156G>A (TTN) | XP_024308865.1:p.Ala16052= | |
| XM_024453098.1:c.48075G>A (TTN) | XP_024308866.1:p.Ala16025= | |
| XM_024453099.1:c.29838G>A (TTN) | XP_024308867.1:p.Ala9946= | |
| XM_024453100.1:c.19692G>A (TTN) | XP_024308868.1:p.Ala6564= |