Linked Data
ClinVar Variation Id:
332746
ClinVar RCV Id:
RCV000272440
RCV000268248
RCV000327501
RCV000304731
RCV000538168
RCV002356452
RCV000359506
RCV003137943
dbSNP Id:
rs377264123
ExAC:
2:179425397 C / T
gnomAD v2:
2-179425397-C-T
gnomAD v3:
2-178560670-C-T
gnomAD v4:
2-178560670-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560670C>T , CM000664.2:g.178560670C>T | GRCh38 |
| NC_000002.11:g.179425397C>T , CM000664.1:g.179425397C>T | GRCh37 |
| NC_000002.10:g.179133643C>T | NCBI36 |
| NG_011618.3:g.275133G>A , LRG_391:g.275133G>A | |
| NG_051363.1:g.42844C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.77758G>A (TTN) | ENSP00000343764.6:p.Val25920Ile | |
| ENST00000342175.11:c.58843G>A (TTN) | ENSP00000340554.6:p.Val19615Ile | |
| ENST00000359218.10:c.58642G>A (TTN) | ENSP00000352154.5:p.Val19548Ile | |
| ENST00000342175.10:c.58843G>A (TTN) | ENSP00000340554.6:p.Val19615Ile | |
| ENST00000342992.10:c.77758G>A (TTN) | ENSP00000343764.6:p.Val25920Ile | |
| ENST00000359218.9:c.58642G>A (TTN) | ENSP00000352154.5:p.Val19548Ile | |
| ENST00000460472.6:c.58267G>A (TTN) | ENSP00000434586.1:p.Val19423Ile | |
| ENST00000589042.5:c.85462G>A (TTN) MANE Select | ENSP00000467141.1:p.Val28488Ile | |
| ENST00000591111.5:c.80539G>A (TTN) | ENSP00000465570.1:p.Val26847Ile | |
| ENST00000615779.4:c.80539G>A (TTN) | ENSP00000483597.1:p.Val26847Ile | |
| NM_001256850.1:c.80539G>A (TTN) | NP_001243779.1:p.Val26847Ile | |
| NM_001267550.2:c.85462G>A (TTN) MANE Select | NP_001254479.2:p.Val28488Ile | |
| NM_003319.4:c.58267G>A (TTN) | NP_003310.4:p.Val19423Ile | |
| NM_133378.4:c.77758G>A (TTN) | NP_596869.4:p.Val25920Ile | |
| NM_133432.3:c.58642G>A (TTN) | NP_597676.3:p.Val19548Ile | |
| NM_133437.4:c.58843G>A (TTN) | NP_597681.4:p.Val19615Ile | |
| NR_038271.1:n.447-10630C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+18309C>T (TTN-AS1) | ||
| XM_011511729.1:c.84559G>A (TTN) | XP_011510031.1:p.Val28187Ile | |
| XM_011511730.1:c.58453G>A (TTN) | XP_011510032.1:p.Val19485Ile | |
| XM_011511731.1:c.58312G>A (TTN) | XP_011510033.1:p.Val19438Ile | |
| XM_017004819.1:c.84355G>A (TTN) | XP_016860308.1:p.Val28119Ile | |
| XM_017004820.1:c.79753G>A (TTN) | XP_016860309.1:p.Val26585Ile | |
| XM_017004821.1:c.79750G>A (TTN) | XP_016860310.1:p.Val26584Ile | |
| XM_017004822.1:c.76792G>A (TTN) | XP_016860311.1:p.Val25598Ile | |
| XM_017004823.1:c.58408G>A (TTN) | XP_016860312.1:p.Val19470Ile | |
| XM_024453094.1:c.79903G>A (TTN) | XP_024308862.1:p.Val26635Ile | |
| XM_024453095.1:c.79900G>A (TTN) | XP_024308863.1:p.Val26634Ile | |
| XM_024453096.1:c.79333G>A (TTN) | XP_024308864.1:p.Val26445Ile | |
| XM_024453097.1:c.76675G>A (TTN) | XP_024308865.1:p.Val25559Ile | |
| XM_024453098.1:c.76594G>A (TTN) | XP_024308866.1:p.Val25532Ile | |
| XM_024453099.1:c.58357G>A (TTN) | XP_024308867.1:p.Val19453Ile | |
| XM_024453100.1:c.48211G>A (TTN) | XP_024308868.1:p.Val16071Ile |