Linked Data
ClinVar Variation Id:
287696
dbSNP Id:
rs777730098
ExAC:
2:179402352 C / T
gnomAD v2:
2-179402352-C-T
gnomAD v3:
2-178537625-C-T
gnomAD v4:
2-178537625-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537625C>T , CM000664.2:g.178537625C>T | GRCh38 |
| NC_000002.11:g.179402352C>T , CM000664.1:g.179402352C>T | GRCh37 |
| NC_000002.10:g.179110598C>T | NCBI36 |
| NG_011618.3:g.298178G>A , LRG_391:g.298178G>A | |
| NG_051363.1:g.19799C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91878G>A (TTN) | ENSP00000343764.6:p.Pro30626= | |
| ENST00000342175.11:c.72963G>A (TTN) | ENSP00000340554.6:p.Pro24321= | |
| ENST00000359218.10:c.72762G>A (TTN) | ENSP00000352154.5:p.Pro24254= | |
| ENST00000342175.10:c.72963G>A (TTN) | ENSP00000340554.6:p.Pro24321= | |
| ENST00000342992.10:c.91878G>A (TTN) | ENSP00000343764.6:p.Pro30626= | |
| ENST00000359218.9:c.72762G>A (TTN) | ENSP00000352154.5:p.Pro24254= | |
| ENST00000460472.6:c.72387G>A (TTN) | ENSP00000434586.1:p.Pro24129= | |
| ENST00000589042.5:c.99582G>A (TTN) MANE Select | ENSP00000467141.1:p.Pro33194= | |
| ENST00000591111.5:c.94659G>A (TTN) | ENSP00000465570.1:p.Pro31553= | |
| ENST00000615779.4:c.94659G>A (TTN) | ENSP00000483597.1:p.Pro31553= | |
| NM_001256850.1:c.94659G>A (TTN) | NP_001243779.1:p.Pro31553= | |
| NM_001267550.2:c.99582G>A (TTN) MANE Select | NP_001254479.2:p.Pro33194= | |
| NM_003319.4:c.72387G>A (TTN) | NP_003310.4:p.Pro24129= | |
| NM_133378.4:c.91878G>A (TTN) | NP_596869.4:p.Pro30626= | |
| NM_133432.3:c.72762G>A (TTN) | NP_597676.3:p.Pro24254= | |
| NM_133437.4:c.72963G>A (TTN) | NP_597681.4:p.Pro24321= | |
| NR_038271.1:n.446+13989C>T (TTN-AS1) | ||
| NR_038272.1:n.581C>T (TTN-AS1) | ||
| XM_011511729.1:c.98679G>A (TTN) | XP_011510031.1:p.Pro32893= | |
| XM_011511730.1:c.72573G>A (TTN) | XP_011510032.1:p.Pro24191= | |
| XM_011511731.1:c.72432G>A (TTN) | XP_011510033.1:p.Pro24144= | |
| XM_017004819.1:c.98475G>A (TTN) | XP_016860308.1:p.Pro32825= | |
| XM_017004820.1:c.93873G>A (TTN) | XP_016860309.1:p.Pro31291= | |
| XM_017004821.1:c.93870G>A (TTN) | XP_016860310.1:p.Pro31290= | |
| XM_017004822.1:c.90912G>A (TTN) | XP_016860311.1:p.Pro30304= | |
| XM_017004823.1:c.72528G>A (TTN) | XP_016860312.1:p.Pro24176= | |
| XM_024453094.1:c.94023G>A (TTN) | XP_024308862.1:p.Pro31341= | |
| XM_024453095.1:c.94020G>A (TTN) | XP_024308863.1:p.Pro31340= | |
| XM_024453096.1:c.93453G>A (TTN) | XP_024308864.1:p.Pro31151= | |
| XM_024453097.1:c.90795G>A (TTN) | XP_024308865.1:p.Pro30265= | |
| XM_024453098.1:c.90714G>A (TTN) | XP_024308866.1:p.Pro30238= | |
| XM_024453099.1:c.72477G>A (TTN) | XP_024308867.1:p.Pro24159= | |
| XM_024453100.1:c.62331G>A (TTN) | XP_024308868.1:p.Pro20777= |