Linked Data
ClinVar Variation Id:
467400
ClinVar RCV Id:
RCV000532135
RCV001131635
RCV001131637
RCV001131639
RCV001584289
RCV001131636
RCV001131638
RCV001170576
dbSNP Id:
rs369257896
ExAC:
2:179444804 C / T
gnomAD v2:
2-179444804-C-T
gnomAD v3:
2-178580077-C-T
gnomAD v4:
2-178580077-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178580077C>T , CM000664.2:g.178580077C>T | GRCh38 |
| NC_000002.11:g.179444804C>T , CM000664.1:g.179444804C>T | GRCh37 |
| NC_000002.10:g.179153050C>T | NCBI36 |
| NG_011618.3:g.255726G>A , LRG_391:g.255726G>A | |
| NG_051363.1:g.62251C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.59506G>A (TTN) | ENSP00000343764.6:p.Val19836Met | |
| ENST00000342175.11:c.40591G>A (TTN) | ENSP00000340554.6:p.Val13531Met | |
| ENST00000359218.10:c.40390G>A (TTN) | ENSP00000352154.5:p.Val13464Met | |
| ENST00000342175.10:c.40591G>A (TTN) | ENSP00000340554.6:p.Val13531Met | |
| ENST00000342992.10:c.59506G>A (TTN) | ENSP00000343764.6:p.Val19836Met | |
| ENST00000359218.9:c.40390G>A (TTN) | ENSP00000352154.5:p.Val13464Met | |
| ENST00000460472.6:c.40015G>A (TTN) | ENSP00000434586.1:p.Val13339Met | |
| ENST00000589042.5:c.67210G>A (TTN) MANE Select | ENSP00000467141.1:p.Val22404Met | |
| ENST00000591111.5:c.62287G>A (TTN) | ENSP00000465570.1:p.Val20763Met | |
| ENST00000615779.4:c.62287G>A (TTN) | ENSP00000483597.1:p.Val20763Met | |
| NM_001256850.1:c.62287G>A (TTN) | NP_001243779.1:p.Val20763Met | |
| NM_001267550.2:c.67210G>A (TTN) MANE Select | NP_001254479.2:p.Val22404Met | |
| NM_003319.4:c.40015G>A (TTN) | NP_003310.4:p.Val13339Met | |
| NM_133378.4:c.59506G>A (TTN) | NP_596869.4:p.Val19836Met | |
| NM_133432.3:c.40390G>A (TTN) | NP_597676.3:p.Val13464Met | |
| NM_133437.4:c.40591G>A (TTN) | NP_597681.4:p.Val13531Met | |
| NR_038271.1:n.596+8628C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-2495C>T (TTN-AS1) | ||
| XM_011511729.1:c.66307G>A (TTN) | XP_011510031.1:p.Val22103Met | |
| XM_011511730.1:c.40201G>A (TTN) | XP_011510032.1:p.Val13401Met | |
| XM_011511731.1:c.40060G>A (TTN) | XP_011510033.1:p.Val13354Met | |
| XM_017004819.1:c.66103G>A (TTN) | XP_016860308.1:p.Val22035Met | |
| XM_017004820.1:c.61501G>A (TTN) | XP_016860309.1:p.Val20501Met | |
| XM_017004821.1:c.61498G>A (TTN) | XP_016860310.1:p.Val20500Met | |
| XM_017004822.1:c.58540G>A (TTN) | XP_016860311.1:p.Val19514Met | |
| XM_017004823.1:c.40156G>A (TTN) | XP_016860312.1:p.Val13386Met | |
| XM_024453094.1:c.61651G>A (TTN) | XP_024308862.1:p.Val20551Met | |
| XM_024453095.1:c.61648G>A (TTN) | XP_024308863.1:p.Val20550Met | |
| XM_024453096.1:c.61081G>A (TTN) | XP_024308864.1:p.Val20361Met | |
| XM_024453097.1:c.58423G>A (TTN) | XP_024308865.1:p.Val19475Met | |
| XM_024453098.1:c.58342G>A (TTN) | XP_024308866.1:p.Val19448Met | |
| XM_024453099.1:c.40105G>A (TTN) | XP_024308867.1:p.Val13369Met | |
| XM_024453100.1:c.29959G>A (TTN) | XP_024308868.1:p.Val9987Met |