Linked Data
ClinVar Variation Id:
332716
ClinVar RCV Id:
RCV000276321
RCV000306676
RCV000333703
RCV000363734
RCV000385997
RCV000852487
RCV003137941
dbSNP Id:
rs755848026
ExAC:
2:179406280 T / C
gnomAD v2:
2-179406280-T-C
gnomAD v3:
2-178541553-T-C
gnomAD v4:
2-178541553-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178541553T>C , CM000664.2:g.178541553T>C | GRCh38 |
| NC_000002.11:g.179406280T>C , CM000664.1:g.179406280T>C | GRCh37 |
| NC_000002.10:g.179114526T>C | NCBI36 |
| NG_011618.3:g.294250A>G , LRG_391:g.294250A>G | |
| NG_051363.1:g.23727T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89820A>G (TTN) | ENSP00000343764.6:p.Ile29940Met | |
| ENST00000342175.11:c.70905A>G (TTN) | ENSP00000340554.6:p.Ile23635Met | |
| ENST00000359218.10:c.70704A>G (TTN) | ENSP00000352154.5:p.Ile23568Met | |
| ENST00000342175.10:c.70905A>G (TTN) | ENSP00000340554.6:p.Ile23635Met | |
| ENST00000342992.10:c.89820A>G (TTN) | ENSP00000343764.6:p.Ile29940Met | |
| ENST00000359218.9:c.70704A>G (TTN) | ENSP00000352154.5:p.Ile23568Met | |
| ENST00000460472.6:c.70329A>G (TTN) | ENSP00000434586.1:p.Ile23443Met | |
| ENST00000589042.5:c.97524A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile32508Met | |
| ENST00000591111.5:c.92601A>G (TTN) | ENSP00000465570.1:p.Ile30867Met | |
| ENST00000615779.4:c.92601A>G (TTN) | ENSP00000483597.1:p.Ile30867Met | |
| NM_001256850.1:c.92601A>G (TTN) | NP_001243779.1:p.Ile30867Met | |
| NM_001267550.2:c.97524A>G (TTN) MANE Select | NP_001254479.2:p.Ile32508Met | |
| NM_003319.4:c.70329A>G (TTN) | NP_003310.4:p.Ile23443Met | |
| NM_133378.4:c.89820A>G (TTN) | NP_596869.4:p.Ile29940Met | |
| NM_133432.3:c.70704A>G (TTN) | NP_597676.3:p.Ile23568Met | |
| NM_133437.4:c.70905A>G (TTN) | NP_597681.4:p.Ile23635Met | |
| NR_038271.1:n.446+17917T>C (TTN-AS1) | ||
| NR_038272.1:n.1904-669T>C (TTN-AS1) | ||
| XM_011511729.1:c.96621A>G (TTN) | XP_011510031.1:p.Ile32207Met | |
| XM_011511730.1:c.70515A>G (TTN) | XP_011510032.1:p.Ile23505Met | |
| XM_011511731.1:c.70374A>G (TTN) | XP_011510033.1:p.Ile23458Met | |
| XM_017004819.1:c.96417A>G (TTN) | XP_016860308.1:p.Ile32139Met | |
| XM_017004820.1:c.91815A>G (TTN) | XP_016860309.1:p.Ile30605Met | |
| XM_017004821.1:c.91812A>G (TTN) | XP_016860310.1:p.Ile30604Met | |
| XM_017004822.1:c.88854A>G (TTN) | XP_016860311.1:p.Ile29618Met | |
| XM_017004823.1:c.70470A>G (TTN) | XP_016860312.1:p.Ile23490Met | |
| XM_024453094.1:c.91965A>G (TTN) | XP_024308862.1:p.Ile30655Met | |
| XM_024453095.1:c.91962A>G (TTN) | XP_024308863.1:p.Ile30654Met | |
| XM_024453096.1:c.91395A>G (TTN) | XP_024308864.1:p.Ile30465Met | |
| XM_024453097.1:c.88737A>G (TTN) | XP_024308865.1:p.Ile29579Met | |
| XM_024453098.1:c.88656A>G (TTN) | XP_024308866.1:p.Ile29552Met | |
| XM_024453099.1:c.70419A>G (TTN) | XP_024308867.1:p.Ile23473Met | |
| XM_024453100.1:c.60273A>G (TTN) | XP_024308868.1:p.Ile20091Met |