Linked Data
ClinVar Variation Id:
47469
ClinVar RCV Id:
RCV000040738
RCV000118785
RCV000307938
RCV000403035
RCV000397868
RCV000313315
RCV000370289
RCV001170318
RCV002354214
RCV001080518
dbSNP Id:
rs141624266
ExAC:
2:179422181 C / T
gnomAD v2:
2-179422181-C-T
gnomAD v3:
2-178557454-C-T
gnomAD v4:
2-178557454-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557454C>T , CM000664.2:g.178557454C>T | GRCh38 |
| NC_000002.11:g.179422181C>T , CM000664.1:g.179422181C>T | GRCh37 |
| NC_000002.10:g.179130427C>T | NCBI36 |
| NG_011618.3:g.278349G>A , LRG_391:g.278349G>A | |
| NG_051363.1:g.39628C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80104G>A (TTN) | ENSP00000343764.6:p.Val26702Ile | |
| ENST00000342175.11:c.61189G>A (TTN) | ENSP00000340554.6:p.Val20397Ile | |
| ENST00000359218.10:c.60988G>A (TTN) | ENSP00000352154.5:p.Val20330Ile | |
| ENST00000342175.10:c.61189G>A (TTN) | ENSP00000340554.6:p.Val20397Ile | |
| ENST00000342992.10:c.80104G>A (TTN) | ENSP00000343764.6:p.Val26702Ile | |
| ENST00000359218.9:c.60988G>A (TTN) | ENSP00000352154.5:p.Val20330Ile | |
| ENST00000460472.6:c.60613G>A (TTN) | ENSP00000434586.1:p.Val20205Ile | |
| ENST00000589042.5:c.87808G>A (TTN) MANE Select | ENSP00000467141.1:p.Val29270Ile | |
| ENST00000591111.5:c.82885G>A (TTN) | ENSP00000465570.1:p.Val27629Ile | |
| ENST00000615779.4:c.82885G>A (TTN) | ENSP00000483597.1:p.Val27629Ile | |
| NM_001256850.1:c.82885G>A (TTN) | NP_001243779.1:p.Val27629Ile | |
| NM_001267550.2:c.87808G>A (TTN) MANE Select | NP_001254479.2:p.Val29270Ile | |
| NM_003319.4:c.60613G>A (TTN) | NP_003310.4:p.Val20205Ile | |
| NM_133378.4:c.80104G>A (TTN) | NP_596869.4:p.Val26702Ile | |
| NM_133432.3:c.60988G>A (TTN) | NP_597676.3:p.Val20330Ile | |
| NM_133437.4:c.61189G>A (TTN) | NP_597681.4:p.Val20397Ile | |
| NR_038271.1:n.447-13846C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+15093C>T (TTN-AS1) | ||
| XM_011511729.1:c.86905G>A (TTN) | XP_011510031.1:p.Val28969Ile | |
| XM_011511730.1:c.60799G>A (TTN) | XP_011510032.1:p.Val20267Ile | |
| XM_011511731.1:c.60658G>A (TTN) | XP_011510033.1:p.Val20220Ile | |
| XM_017004819.1:c.86701G>A (TTN) | XP_016860308.1:p.Val28901Ile | |
| XM_017004820.1:c.82099G>A (TTN) | XP_016860309.1:p.Val27367Ile | |
| XM_017004821.1:c.82096G>A (TTN) | XP_016860310.1:p.Val27366Ile | |
| XM_017004822.1:c.79138G>A (TTN) | XP_016860311.1:p.Val26380Ile | |
| XM_017004823.1:c.60754G>A (TTN) | XP_016860312.1:p.Val20252Ile | |
| XM_024453094.1:c.82249G>A (TTN) | XP_024308862.1:p.Val27417Ile | |
| XM_024453095.1:c.82246G>A (TTN) | XP_024308863.1:p.Val27416Ile | |
| XM_024453096.1:c.81679G>A (TTN) | XP_024308864.1:p.Val27227Ile | |
| XM_024453097.1:c.79021G>A (TTN) | XP_024308865.1:p.Val26341Ile | |
| XM_024453098.1:c.78940G>A (TTN) | XP_024308866.1:p.Val26314Ile | |
| XM_024453099.1:c.60703G>A (TTN) | XP_024308867.1:p.Val20235Ile | |
| XM_024453100.1:c.50557G>A (TTN) | XP_024308868.1:p.Val16853Ile |