Linked Data
ClinVar Variation Id:
467294
dbSNP Id:
rs373153121
ExAC:
2:179463526 C / T
gnomAD v2:
2-179463526-C-T
gnomAD v3:
2-178598799-C-T
gnomAD v4:
2-178598799-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178598799C>T , CM000664.2:g.178598799C>T | GRCh38 |
| NC_000002.11:g.179463526C>T , CM000664.1:g.179463526C>T | GRCh37 |
| NC_000002.10:g.179171771C>T | NCBI36 |
| NG_011618.3:g.237004G>A , LRG_391:g.237004G>A | |
| NG_051363.1:g.80973C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49207G>A (TTN) | ENSP00000343764.6:p.Val16403Met | |
| ENST00000342175.11:c.30292G>A (TTN) | ENSP00000340554.6:p.Val10098Met | |
| ENST00000359218.10:c.30091G>A (TTN) | ENSP00000352154.5:p.Val10031Met | |
| ENST00000342175.10:c.30292G>A (TTN) | ENSP00000340554.6:p.Val10098Met | |
| ENST00000342992.10:c.49207G>A (TTN) | ENSP00000343764.6:p.Val16403Met | |
| ENST00000359218.9:c.30091G>A (TTN) | ENSP00000352154.5:p.Val10031Met | |
| ENST00000460472.6:c.29716G>A (TTN) | ENSP00000434586.1:p.Val9906Met | |
| ENST00000589042.5:c.56911G>A (TTN) MANE Select | ENSP00000467141.1:p.Val18971Met | |
| ENST00000591111.5:c.51988G>A (TTN) | ENSP00000465570.1:p.Val17330Met | |
| ENST00000615779.4:c.51988G>A (TTN) | ENSP00000483597.1:p.Val17330Met | |
| NM_001256850.1:c.51988G>A (TTN) | NP_001243779.1:p.Val17330Met | |
| NM_001267550.2:c.56911G>A (TTN) MANE Select | NP_001254479.2:p.Val18971Met | |
| NM_003319.4:c.29716G>A (TTN) | NP_003310.4:p.Val9906Met | |
| NM_133378.4:c.49207G>A (TTN) | NP_596869.4:p.Val16403Met | |
| NM_133432.3:c.30091G>A (TTN) | NP_597676.3:p.Val10031Met | |
| NM_133437.4:c.30292G>A (TTN) | NP_597681.4:p.Val10098Met | |
| NR_038271.1:n.682+1118C>T (TTN-AS1) | ||
| NR_038272.1:n.3568+126C>T (TTN-AS1) | ||
| XM_011511729.1:c.56008G>A (TTN) | XP_011510031.1:p.Val18670Met | |
| XM_011511730.1:c.29902G>A (TTN) | XP_011510032.1:p.Val9968Met | |
| XM_011511731.1:c.29761G>A (TTN) | XP_011510033.1:p.Val9921Met | |
| XM_017004819.1:c.55804G>A (TTN) | XP_016860308.1:p.Val18602Met | |
| XM_017004820.1:c.51202G>A (TTN) | XP_016860309.1:p.Val17068Met | |
| XM_017004821.1:c.51199G>A (TTN) | XP_016860310.1:p.Val17067Met | |
| XM_017004822.1:c.48241G>A (TTN) | XP_016860311.1:p.Val16081Met | |
| XM_017004823.1:c.29857G>A (TTN) | XP_016860312.1:p.Val9953Met | |
| XM_024453094.1:c.51352G>A (TTN) | XP_024308862.1:p.Val17118Met | |
| XM_024453095.1:c.51349G>A (TTN) | XP_024308863.1:p.Val17117Met | |
| XM_024453096.1:c.50782G>A (TTN) | XP_024308864.1:p.Val16928Met | |
| XM_024453097.1:c.48124G>A (TTN) | XP_024308865.1:p.Val16042Met | |
| XM_024453098.1:c.48043G>A (TTN) | XP_024308866.1:p.Val16015Met | |
| XM_024453099.1:c.29806G>A (TTN) | XP_024308867.1:p.Val9936Met | |
| XM_024453100.1:c.19660G>A (TTN) | XP_024308868.1:p.Val6554Met |