Linked Data
ClinVar Variation Id:
238697
dbSNP Id:
rs145560044
ExAC:
2:179395298 G / T
gnomAD v2:
2-179395298-G-T
gnomAD v3:
2-178530571-G-T
gnomAD v4:
2-178530571-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530571G>T , CM000664.2:g.178530571G>T | GRCh38 |
| NC_000002.11:g.179395298G>T , CM000664.1:g.179395298G>T | GRCh37 |
| NC_000002.10:g.179103544G>T | NCBI36 |
| NG_011618.3:g.305232C>A , LRG_391:g.305232C>A | |
| NG_051363.1:g.12745G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98340C>A (TTN) | ENSP00000343764.6:p.Asn32780Lys | |
| ENST00000342175.11:c.79425C>A (TTN) | ENSP00000340554.6:p.Asn26475Lys | |
| ENST00000359218.10:c.79224C>A (TTN) | ENSP00000352154.5:p.Asn26408Lys | |
| ENST00000342175.10:c.79425C>A (TTN) | ENSP00000340554.6:p.Asn26475Lys | |
| ENST00000342992.10:c.98340C>A (TTN) | ENSP00000343764.6:p.Asn32780Lys | |
| ENST00000359218.9:c.79224C>A (TTN) | ENSP00000352154.5:p.Asn26408Lys | |
| ENST00000460472.6:c.78849C>A (TTN) | ENSP00000434586.1:p.Asn26283Lys | |
| ENST00000589042.5:c.106044C>A (TTN) MANE Select | ENSP00000467141.1:p.Asn35348Lys | |
| ENST00000591111.5:c.101121C>A (TTN) | ENSP00000465570.1:p.Asn33707Lys | |
| ENST00000615779.4:c.101121C>A (TTN) | ENSP00000483597.1:p.Asn33707Lys | |
| NM_001256850.1:c.101121C>A (TTN) | NP_001243779.1:p.Asn33707Lys | |
| NM_001267550.2:c.106044C>A (TTN) MANE Select | NP_001254479.2:p.Asn35348Lys | |
| NM_003319.4:c.78849C>A (TTN) | NP_003310.4:p.Asn26283Lys | |
| NM_133378.4:c.98340C>A (TTN) | NP_596869.4:p.Asn32780Lys | |
| NM_133432.3:c.79224C>A (TTN) | NP_597676.3:p.Asn26408Lys | |
| NM_133437.4:c.79425C>A (TTN) | NP_597681.4:p.Asn26475Lys | |
| NR_038271.1:n.446+6935G>T (TTN-AS1) | ||
| NR_038272.1:n.220-5161G>T (TTN-AS1) | ||
| XM_011511729.1:c.105141C>A (TTN) | XP_011510031.1:p.Asn35047Lys | |
| XM_011511730.1:c.79035C>A (TTN) | XP_011510032.1:p.Asn26345Lys | |
| XM_011511731.1:c.78894C>A (TTN) | XP_011510033.1:p.Asn26298Lys | |
| XM_017004819.1:c.104937C>A (TTN) | XP_016860308.1:p.Asn34979Lys | |
| XM_017004820.1:c.100335C>A (TTN) | XP_016860309.1:p.Asn33445Lys | |
| XM_017004821.1:c.100332C>A (TTN) | XP_016860310.1:p.Asn33444Lys | |
| XM_017004822.1:c.97374C>A (TTN) | XP_016860311.1:p.Asn32458Lys | |
| XM_017004823.1:c.78990C>A (TTN) | XP_016860312.1:p.Asn26330Lys | |
| XM_024453094.1:c.100485C>A (TTN) | XP_024308862.1:p.Asn33495Lys | |
| XM_024453095.1:c.100482C>A (TTN) | XP_024308863.1:p.Asn33494Lys | |
| XM_024453096.1:c.99915C>A (TTN) | XP_024308864.1:p.Asn33305Lys | |
| XM_024453097.1:c.97257C>A (TTN) | XP_024308865.1:p.Asn32419Lys | |
| XM_024453098.1:c.97176C>A (TTN) | XP_024308866.1:p.Asn32392Lys | |
| XM_024453099.1:c.78939C>A (TTN) | XP_024308867.1:p.Asn26313Lys | |
| XM_024453100.1:c.68793C>A (TTN) | XP_024308868.1:p.Asn22931Lys |