Linked Data
ClinVar Variation Id:
166002
ClinVar RCV Id:
RCV000152336
RCV000292995
RCV000277665
RCV000332647
RCV000387269
RCV000372898
RCV000724703
RCV001082902
RCV002426725
dbSNP Id:
rs372635204
ExAC:
2:179474472 G / A
gnomAD v2:
2-179474472-G-A
gnomAD v3:
2-178609745-G-A
gnomAD v4:
2-178609745-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178609745G>A , CM000664.2:g.178609745G>A | GRCh38 |
| NC_000002.11:g.179474472G>A , CM000664.1:g.179474472G>A | GRCh37 |
| NC_000002.10:g.179182717G>A | NCBI36 |
| NG_011618.3:g.226058C>T , LRG_391:g.226058C>T | |
| NG_051363.1:g.91919G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.43974C>T (TTN) | ENSP00000343764.6:p.Asn14658= | |
| ENST00000342175.11:c.25059C>T (TTN) | ENSP00000340554.6:p.Asn8353= | |
| ENST00000359218.10:c.24858C>T (TTN) | ENSP00000352154.5:p.Asn8286= | |
| ENST00000342175.10:c.25059C>T (TTN) | ENSP00000340554.6:p.Asn8353= | |
| ENST00000342992.10:c.43974C>T (TTN) | ENSP00000343764.6:p.Asn14658= | |
| ENST00000359218.9:c.24858C>T (TTN) | ENSP00000352154.5:p.Asn8286= | |
| ENST00000460472.6:c.24483C>T (TTN) | ENSP00000434586.1:p.Asn8161= | |
| ENST00000589042.5:c.51678C>T (TTN) MANE Select | ENSP00000467141.1:p.Asn17226= | |
| ENST00000591111.5:c.46755C>T (TTN) | ENSP00000465570.1:p.Asn15585= | |
| ENST00000615779.4:c.46755C>T (TTN) | ENSP00000483597.1:p.Asn15585= | |
| NM_001256850.1:c.46755C>T (TTN) | NP_001243779.1:p.Asn15585= | |
| NM_001267550.2:c.51678C>T (TTN) MANE Select | NP_001254479.2:p.Asn17226= | |
| NM_003319.4:c.24483C>T (TTN) | NP_003310.4:p.Asn8161= | |
| NM_133378.4:c.43974C>T (TTN) | NP_596869.4:p.Asn14658= | |
| NM_133432.3:c.24858C>T (TTN) | NP_597676.3:p.Asn8286= | |
| NM_133437.4:c.25059C>T (TTN) | NP_597681.4:p.Asn8353= | |
| NR_038271.1:n.782+1479G>A (TTN-AS1) | ||
| XM_011511729.1:c.50775C>T (TTN) | XP_011510031.1:p.Asn16925= | |
| XM_011511730.1:c.24669C>T (TTN) | XP_011510032.1:p.Asn8223= | |
| XM_011511731.1:c.24528C>T (TTN) | XP_011510033.1:p.Asn8176= | |
| XM_017004819.1:c.50571C>T (TTN) | XP_016860308.1:p.Asn16857= | |
| XM_017004820.1:c.45969C>T (TTN) | XP_016860309.1:p.Asn15323= | |
| XM_017004821.1:c.45966C>T (TTN) | XP_016860310.1:p.Asn15322= | |
| XM_017004822.1:c.43008C>T (TTN) | XP_016860311.1:p.Asn14336= | |
| XM_017004823.1:c.24624C>T (TTN) | XP_016860312.1:p.Asn8208= | |
| XM_024453094.1:c.46119C>T (TTN) | XP_024308862.1:p.Asn15373= | |
| XM_024453095.1:c.46116C>T (TTN) | XP_024308863.1:p.Asn15372= | |
| XM_024453096.1:c.45549C>T (TTN) | XP_024308864.1:p.Asn15183= | |
| XM_024453097.1:c.42891C>T (TTN) | XP_024308865.1:p.Asn14297= | |
| XM_024453098.1:c.42810C>T (TTN) | XP_024308866.1:p.Asn14270= | |
| XM_024453099.1:c.24573C>T (TTN) | XP_024308867.1:p.Asn8191= | |
| XM_024453100.1:c.14427C>T (TTN) | XP_024308868.1:p.Asn4809= |