Linked Data
ClinVar Variation Id:
96312
ClinVar RCV Id:
RCV000154904
RCV000266636
RCV000272726
RCV000249525
RCV000324137
RCV000359033
RCV000364984
RCV000472169
RCV000768871
RCV001086313
dbSNP Id:
rs201770959
ExAC:
2:179422286 C / A
gnomAD v2:
2-179422286-C-A
gnomAD v3:
2-178557559-C-A
gnomAD v4:
2-178557559-C-A
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557559C>A , CM000664.2:g.178557559C>A | GRCh38 |
| NC_000002.11:g.179422286C>A , CM000664.1:g.179422286C>A | GRCh37 |
| NC_000002.10:g.179130532C>A | NCBI36 |
| NG_011618.3:g.278244G>T , LRG_391:g.278244G>T | |
| NG_051363.1:g.39733C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80003-4G>T (TTN) | ENSP00000343764.6:n.80003-4G>T | |
| ENST00000342175.11:c.61088-4G>T (TTN) | ENSP00000340554.6:n.61088-4G>T | |
| ENST00000359218.10:c.60887-4G>T (TTN) | ENSP00000352154.5:n.60887-4G>T | |
| ENST00000342175.10:c.61088-4G>T (TTN) | ENSP00000340554.6:n.61088-4G>T | |
| ENST00000342992.10:c.80003-4G>T (TTN) | ENSP00000343764.6:n.80003-4G>T | |
| ENST00000359218.9:c.60887-4G>T (TTN) | ENSP00000352154.5:n.60887-4G>T | |
| ENST00000460472.6:c.60512-4G>T (TTN) | ENSP00000434586.1:n.60512-4G>T | |
| ENST00000589042.5:c.87707-4G>T (TTN) MANE Select | ENSP00000467141.1:n.87707-4G>T | |
| ENST00000591111.5:c.82784-4G>T (TTN) | ENSP00000465570.1:n.82784-4G>T | |
| ENST00000615779.4:c.82784-4G>T (TTN) | ENSP00000483597.1:n.82784-4G>T | |
| NM_001256850.1:c.82784-4G>T (TTN) | NP_001243779.1:n.82784-4G>T | |
| NM_001267550.2:c.87707-4G>T (TTN) MANE Select | NP_001254479.2:n.87707-4G>T | |
| NM_003319.4:c.60512-4G>T (TTN) | NP_003310.4:n.60512-4G>T | |
| NM_133378.4:c.80003-4G>T (TTN) | NP_596869.4:n.80003-4G>T | |
| NM_133432.3:c.60887-4G>T (TTN) | NP_597676.3:n.60887-4G>T | |
| NM_133437.4:c.61088-4G>T (TTN) | NP_597681.4:n.61088-4G>T | |
| NR_038271.1:n.447-13741C>A (TTN-AS1) | ||
| NR_038272.1:n.2043+15198C>A (TTN-AS1) | ||
| XM_011511729.1:c.86804-4G>T (TTN) | XP_011510031.1:n.86804-4G>T | |
| XM_011511730.1:c.60698-4G>T (TTN) | XP_011510032.1:n.60698-4G>T | |
| XM_011511731.1:c.60557-4G>T (TTN) | XP_011510033.1:n.60557-4G>T | |
| XM_017004819.1:c.86600-4G>T (TTN) | XP_016860308.1:n.86600-4G>T | |
| XM_017004820.1:c.81998-4G>T (TTN) | XP_016860309.1:n.81998-4G>T | |
| XM_017004821.1:c.81995-4G>T (TTN) | XP_016860310.1:n.81995-4G>T | |
| XM_017004822.1:c.79037-4G>T (TTN) | XP_016860311.1:n.79037-4G>T | |
| XM_017004823.1:c.60653-4G>T (TTN) | XP_016860312.1:n.60653-4G>T | |
| XM_024453094.1:c.82148-4G>T (TTN) | XP_024308862.1:n.82148-4G>T | |
| XM_024453095.1:c.82145-4G>T (TTN) | XP_024308863.1:n.82145-4G>T | |
| XM_024453096.1:c.81578-4G>T (TTN) | XP_024308864.1:n.81578-4G>T | |
| XM_024453097.1:c.78920-4G>T (TTN) | XP_024308865.1:n.78920-4G>T | |
| XM_024453098.1:c.78839-4G>T (TTN) | XP_024308866.1:n.78839-4G>T | |
| XM_024453099.1:c.60602-4G>T (TTN) | XP_024308867.1:n.60602-4G>T | |
| XM_024453100.1:c.50456-4G>T (TTN) | XP_024308868.1:n.50456-4G>T |