Linked Data
ClinVar Variation Id:
497012
dbSNP Id:
rs556741970
ExAC:
2:179396081 C / T
gnomAD v2:
2-179396081-C-T
gnomAD v3:
2-178531354-C-T
gnomAD v4:
2-178531354-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531354C>T , CM000664.2:g.178531354C>T | GRCh38 |
| NC_000002.11:g.179396081C>T , CM000664.1:g.179396081C>T | GRCh37 |
| NC_000002.10:g.179104327C>T | NCBI36 |
| NG_011618.3:g.304449G>A , LRG_391:g.304449G>A | |
| NG_051363.1:g.13528C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97557G>A (TTN) | ENSP00000343764.6:p.Thr32519= | |
| ENST00000342175.11:c.78642G>A (TTN) | ENSP00000340554.6:p.Thr26214= | |
| ENST00000359218.10:c.78441G>A (TTN) | ENSP00000352154.5:p.Thr26147= | |
| ENST00000342175.10:c.78642G>A (TTN) | ENSP00000340554.6:p.Thr26214= | |
| ENST00000342992.10:c.97557G>A (TTN) | ENSP00000343764.6:p.Thr32519= | |
| ENST00000359218.9:c.78441G>A (TTN) | ENSP00000352154.5:p.Thr26147= | |
| ENST00000460472.6:c.78066G>A (TTN) | ENSP00000434586.1:p.Thr26022= | |
| ENST00000589042.5:c.105261G>A (TTN) MANE Select | ENSP00000467141.1:p.Thr35087= | |
| ENST00000591111.5:c.100338G>A (TTN) | ENSP00000465570.1:p.Thr33446= | |
| ENST00000615779.4:c.100338G>A (TTN) | ENSP00000483597.1:p.Thr33446= | |
| NM_001256850.1:c.100338G>A (TTN) | NP_001243779.1:p.Thr33446= | |
| NM_001267550.2:c.105261G>A (TTN) MANE Select | NP_001254479.2:p.Thr35087= | |
| NM_003319.4:c.78066G>A (TTN) | NP_003310.4:p.Thr26022= | |
| NM_133378.4:c.97557G>A (TTN) | NP_596869.4:p.Thr32519= | |
| NM_133432.3:c.78441G>A (TTN) | NP_597676.3:p.Thr26147= | |
| NM_133437.4:c.78642G>A (TTN) | NP_597681.4:p.Thr26214= | |
| NR_038271.1:n.446+7718C>T (TTN-AS1) | ||
| NR_038272.1:n.220-4378C>T (TTN-AS1) | ||
| XM_011511729.1:c.104358G>A (TTN) | XP_011510031.1:p.Thr34786= | |
| XM_011511730.1:c.78252G>A (TTN) | XP_011510032.1:p.Thr26084= | |
| XM_011511731.1:c.78111G>A (TTN) | XP_011510033.1:p.Thr26037= | |
| XM_017004819.1:c.104154G>A (TTN) | XP_016860308.1:p.Thr34718= | |
| XM_017004820.1:c.99552G>A (TTN) | XP_016860309.1:p.Thr33184= | |
| XM_017004821.1:c.99549G>A (TTN) | XP_016860310.1:p.Thr33183= | |
| XM_017004822.1:c.96591G>A (TTN) | XP_016860311.1:p.Thr32197= | |
| XM_017004823.1:c.78207G>A (TTN) | XP_016860312.1:p.Thr26069= | |
| XM_024453094.1:c.99702G>A (TTN) | XP_024308862.1:p.Thr33234= | |
| XM_024453095.1:c.99699G>A (TTN) | XP_024308863.1:p.Thr33233= | |
| XM_024453096.1:c.99132G>A (TTN) | XP_024308864.1:p.Thr33044= | |
| XM_024453097.1:c.96474G>A (TTN) | XP_024308865.1:p.Thr32158= | |
| XM_024453098.1:c.96393G>A (TTN) | XP_024308866.1:p.Thr32131= | |
| XM_024453099.1:c.78156G>A (TTN) | XP_024308867.1:p.Thr26052= | |
| XM_024453100.1:c.68010G>A (TTN) | XP_024308868.1:p.Thr22670= |