Linked Data
ClinVar Variation Id:
47620
ClinVar RCV Id:
RCV000040889
RCV000275108
RCV000269396
RCV000332789
RCV000326843
RCV000371058
RCV000464007
RCV000383950
RCV000768841
RCV001528790
RCV002381320
dbSNP Id:
rs397517781
ExAC:
2:179402104 C / T
gnomAD v2:
2-179402104-C-T
gnomAD v3:
2-178537377-C-T
gnomAD v4:
2-178537377-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537377C>T , CM000664.2:g.178537377C>T | GRCh38 |
| NC_000002.11:g.179402104C>T , CM000664.1:g.179402104C>T | GRCh37 |
| NC_000002.10:g.179110350C>T | NCBI36 |
| NG_011618.3:g.298426G>A , LRG_391:g.298426G>A | |
| NG_051363.1:g.19551C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92126G>A (TTN) | ENSP00000343764.6:p.Gly30709Glu | |
| ENST00000342175.11:c.73211G>A (TTN) | ENSP00000340554.6:p.Gly24404Glu | |
| ENST00000359218.10:c.73010G>A (TTN) | ENSP00000352154.5:p.Gly24337Glu | |
| ENST00000342175.10:c.73211G>A (TTN) | ENSP00000340554.6:p.Gly24404Glu | |
| ENST00000342992.10:c.92126G>A (TTN) | ENSP00000343764.6:p.Gly30709Glu | |
| ENST00000359218.9:c.73010G>A (TTN) | ENSP00000352154.5:p.Gly24337Glu | |
| ENST00000460472.6:c.72635G>A (TTN) | ENSP00000434586.1:p.Gly24212Glu | |
| ENST00000589042.5:c.99830G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly33277Glu | |
| ENST00000591111.5:c.94907G>A (TTN) | ENSP00000465570.1:p.Gly31636Glu | |
| ENST00000615779.4:c.94907G>A (TTN) | ENSP00000483597.1:p.Gly31636Glu | |
| NM_001256850.1:c.94907G>A (TTN) | NP_001243779.1:p.Gly31636Glu | |
| NM_001267550.2:c.99830G>A (TTN) MANE Select | NP_001254479.2:p.Gly33277Glu | |
| NM_003319.4:c.72635G>A (TTN) | NP_003310.4:p.Gly24212Glu | |
| NM_133378.4:c.92126G>A (TTN) | NP_596869.4:p.Gly30709Glu | |
| NM_133432.3:c.73010G>A (TTN) | NP_597676.3:p.Gly24337Glu | |
| NM_133437.4:c.73211G>A (TTN) | NP_597681.4:p.Gly24404Glu | |
| NR_038271.1:n.446+13741C>T (TTN-AS1) | ||
| NR_038272.1:n.333C>T (TTN-AS1) | ||
| XM_011511729.1:c.98927G>A (TTN) | XP_011510031.1:p.Gly32976Glu | |
| XM_011511730.1:c.72821G>A (TTN) | XP_011510032.1:p.Gly24274Glu | |
| XM_011511731.1:c.72680G>A (TTN) | XP_011510033.1:p.Gly24227Glu | |
| XM_017004819.1:c.98723G>A (TTN) | XP_016860308.1:p.Gly32908Glu | |
| XM_017004820.1:c.94121G>A (TTN) | XP_016860309.1:p.Gly31374Glu | |
| XM_017004821.1:c.94118G>A (TTN) | XP_016860310.1:p.Gly31373Glu | |
| XM_017004822.1:c.91160G>A (TTN) | XP_016860311.1:p.Gly30387Glu | |
| XM_017004823.1:c.72776G>A (TTN) | XP_016860312.1:p.Gly24259Glu | |
| XM_024453094.1:c.94271G>A (TTN) | XP_024308862.1:p.Gly31424Glu | |
| XM_024453095.1:c.94268G>A (TTN) | XP_024308863.1:p.Gly31423Glu | |
| XM_024453096.1:c.93701G>A (TTN) | XP_024308864.1:p.Gly31234Glu | |
| XM_024453097.1:c.91043G>A (TTN) | XP_024308865.1:p.Gly30348Glu | |
| XM_024453098.1:c.90962G>A (TTN) | XP_024308866.1:p.Gly30321Glu | |
| XM_024453099.1:c.72725G>A (TTN) | XP_024308867.1:p.Gly24242Glu | |
| XM_024453100.1:c.62579G>A (TTN) | XP_024308868.1:p.Gly20860Glu |