Linked Data
ClinVar Variation Id:
191810
ClinVar RCV Id:
RCV000172149
dbSNP Id:
rs201882514
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530587T>C , CM000664.2:g.178530587T>C | GRCh38 |
| NC_000002.11:g.179395314T>C , CM000664.1:g.179395314T>C | GRCh37 |
| NC_000002.10:g.179103560T>C | NCBI36 |
| NG_011618.3:g.305216A>G , LRG_391:g.305216A>G | |
| NG_051363.1:g.12761T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98324A>G (TTN) | ENSP00000343764.6:p.Glu32775Gly | |
| ENST00000342175.11:c.79409A>G (TTN) | ENSP00000340554.6:p.Glu26470Gly | |
| ENST00000359218.10:c.79208A>G (TTN) | ENSP00000352154.5:p.Glu26403Gly | |
| ENST00000342175.10:c.79409A>G (TTN) | ENSP00000340554.6:p.Glu26470Gly | |
| ENST00000342992.10:c.98324A>G (TTN) | ENSP00000343764.6:p.Glu32775Gly | |
| ENST00000359218.9:c.79208A>G (TTN) | ENSP00000352154.5:p.Glu26403Gly | |
| ENST00000460472.6:c.78833A>G (TTN) | ENSP00000434586.1:p.Glu26278Gly | |
| ENST00000589042.5:c.106028A>G (TTN) MANE Select | ENSP00000467141.1:p.Glu35343Gly | |
| ENST00000591111.5:c.101105A>G (TTN) | ENSP00000465570.1:p.Glu33702Gly | |
| ENST00000615779.4:c.101105A>G (TTN) | ENSP00000483597.1:p.Glu33702Gly | |
| NM_001256850.1:c.101105A>G (TTN) | NP_001243779.1:p.Glu33702Gly | |
| NM_001267550.2:c.106028A>G (TTN) MANE Select | NP_001254479.2:p.Glu35343Gly | |
| NM_003319.4:c.78833A>G (TTN) | NP_003310.4:p.Glu26278Gly | |
| NM_133378.4:c.98324A>G (TTN) | NP_596869.4:p.Glu32775Gly | |
| NM_133432.3:c.79208A>G (TTN) | NP_597676.3:p.Glu26403Gly | |
| NM_133437.4:c.79409A>G (TTN) | NP_597681.4:p.Glu26470Gly | |
| NR_038271.1:n.446+6951T>C (TTN-AS1) | ||
| NR_038272.1:n.220-5145T>C (TTN-AS1) | ||
| XM_011511729.1:c.105125A>G (TTN) | XP_011510031.1:p.Glu35042Gly | |
| XM_011511730.1:c.79019A>G (TTN) | XP_011510032.1:p.Glu26340Gly | |
| XM_011511731.1:c.78878A>G (TTN) | XP_011510033.1:p.Glu26293Gly | |
| XM_017004819.1:c.104921A>G (TTN) | XP_016860308.1:p.Glu34974Gly | |
| XM_017004820.1:c.100319A>G (TTN) | XP_016860309.1:p.Glu33440Gly | |
| XM_017004821.1:c.100316A>G (TTN) | XP_016860310.1:p.Glu33439Gly | |
| XM_017004822.1:c.97358A>G (TTN) | XP_016860311.1:p.Glu32453Gly | |
| XM_017004823.1:c.78974A>G (TTN) | XP_016860312.1:p.Glu26325Gly | |
| XM_024453094.1:c.100469A>G (TTN) | XP_024308862.1:p.Glu33490Gly | |
| XM_024453095.1:c.100466A>G (TTN) | XP_024308863.1:p.Glu33489Gly | |
| XM_024453096.1:c.99899A>G (TTN) | XP_024308864.1:p.Glu33300Gly | |
| XM_024453097.1:c.97241A>G (TTN) | XP_024308865.1:p.Glu32414Gly | |
| XM_024453098.1:c.97160A>G (TTN) | XP_024308866.1:p.Glu32387Gly | |
| XM_024453099.1:c.78923A>G (TTN) | XP_024308867.1:p.Glu26308Gly | |
| XM_024453100.1:c.68777A>G (TTN) | XP_024308868.1:p.Glu22926Gly |