Linked Data
ClinVar Variation Id:
518510
dbSNP Id:
rs1009131948
gnomAD v2:
2-179392275-G-A
gnomAD v3:
2-178527548-G-A
gnomAD v4:
2-178527548-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527548G>A , CM000664.2:g.178527548G>A | GRCh38 |
| NC_000002.11:g.179392275G>A , CM000664.1:g.179392275G>A | GRCh37 |
| NC_000002.10:g.179100521G>A | NCBI36 |
| NG_011618.3:g.308255C>T , LRG_391:g.308255C>T | |
| NG_051363.1:g.9722G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99874C>T (TTN) | ENSP00000343764.6:p.Gln33292Ter | |
| ENST00000342175.11:c.80959C>T (TTN) | ENSP00000340554.6:p.Gln26987Ter | |
| ENST00000359218.10:c.80758C>T (TTN) | ENSP00000352154.5:p.Gln26920Ter | |
| ENST00000342175.10:c.80959C>T (TTN) | ENSP00000340554.6:p.Gln26987Ter | |
| ENST00000342992.10:c.99874C>T (TTN) | ENSP00000343764.6:p.Gln33292Ter | |
| ENST00000359218.9:c.80758C>T (TTN) | ENSP00000352154.5:p.Gln26920Ter | |
| ENST00000460472.6:c.80383C>T (TTN) | ENSP00000434586.1:p.Gln26795Ter | |
| ENST00000589042.5:c.107578C>T (TTN) MANE Select | ENSP00000467141.1:p.Gln35860Ter | |
| ENST00000591111.5:c.102655C>T (TTN) | ENSP00000465570.1:p.Gln34219Ter | |
| ENST00000615779.4:c.102655C>T (TTN) | ENSP00000483597.1:p.Gln34219Ter | |
| NM_001256850.1:c.102655C>T (TTN) | NP_001243779.1:p.Gln34219Ter | |
| NM_001267550.2:c.107578C>T (TTN) MANE Select | NP_001254479.2:p.Gln35860Ter | |
| NM_003319.4:c.80383C>T (TTN) | NP_003310.4:p.Gln26795Ter | |
| NM_133378.4:c.99874C>T (TTN) | NP_596869.4:p.Gln33292Ter | |
| NM_133432.3:c.80758C>T (TTN) | NP_597676.3:p.Gln26920Ter | |
| NM_133437.4:c.80959C>T (TTN) | NP_597681.4:p.Gln26987Ter | |
| NR_038271.1:n.446+3912G>A (TTN-AS1) | ||
| NR_038272.1:n.219+3912G>A (TTN-AS1) | ||
| XM_011511729.1:c.106675C>T (TTN) | XP_011510031.1:p.Gln35559Ter | |
| XM_011511730.1:c.80569C>T (TTN) | XP_011510032.1:p.Gln26857Ter | |
| XM_011511731.1:c.80428C>T (TTN) | XP_011510033.1:p.Gln26810Ter | |
| XM_017004819.1:c.106471C>T (TTN) | XP_016860308.1:p.Gln35491Ter | |
| XM_017004820.1:c.101869C>T (TTN) | XP_016860309.1:p.Gln33957Ter | |
| XM_017004821.1:c.101866C>T (TTN) | XP_016860310.1:p.Gln33956Ter | |
| XM_017004822.1:c.98908C>T (TTN) | XP_016860311.1:p.Gln32970Ter | |
| XM_017004823.1:c.80524C>T (TTN) | XP_016860312.1:p.Gln26842Ter | |
| XM_024453094.1:c.102019C>T (TTN) | XP_024308862.1:p.Gln34007Ter | |
| XM_024453095.1:c.102016C>T (TTN) | XP_024308863.1:p.Gln34006Ter | |
| XM_024453096.1:c.101449C>T (TTN) | XP_024308864.1:p.Gln33817Ter | |
| XM_024453097.1:c.98791C>T (TTN) | XP_024308865.1:p.Gln32931Ter | |
| XM_024453098.1:c.98710C>T (TTN) | XP_024308866.1:p.Gln32904Ter | |
| XM_024453099.1:c.80473C>T (TTN) | XP_024308867.1:p.Gln26825Ter | |
| XM_024453100.1:c.70327C>T (TTN) | XP_024308868.1:p.Gln23443Ter |