Linked Data
ClinVar Variation Id:
155849
ClinVar RCV Id:
RCV000143972
RCV000225702
RCV000546863
RCV000727758
RCV001130643
RCV001130642
RCV001130639
RCV001130640
RCV001130641
RCV002444595
RCV004544324
dbSNP Id:
rs587782987
ExAC:
2:179476001 G / A
gnomAD v2:
2-179476001-G-A
gnomAD v3:
2-178611274-G-A
gnomAD v4:
2-178611274-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178611274G>A , CM000664.2:g.178611274G>A | GRCh38 |
| NC_000002.11:g.179476001G>A , CM000664.1:g.179476001G>A | GRCh37 |
| NC_000002.10:g.179184246G>A | NCBI36 |
| NG_011618.3:g.224529C>T , LRG_391:g.224529C>T | |
| NG_051363.1:g.93448G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.43154-3C>T (TTN) | ENSP00000343764.6:n.43154-3C>T | |
| ENST00000342175.11:c.24239-3C>T (TTN) | ENSP00000340554.6:n.24239-3C>T | |
| ENST00000359218.10:c.24038-3C>T (TTN) | ENSP00000352154.5:n.24038-3C>T | |
| ENST00000342175.10:c.24239-3C>T (TTN) | ENSP00000340554.6:n.24239-3C>T | |
| ENST00000342992.10:c.43154-3C>T (TTN) | ENSP00000343764.6:n.43154-3C>T | |
| ENST00000359218.9:c.24038-3C>T (TTN) | ENSP00000352154.5:n.24038-3C>T | |
| ENST00000460472.6:c.23663-3C>T (TTN) | ENSP00000434586.1:n.23663-3C>T | |
| ENST00000589042.5:c.50858-3C>T (TTN) MANE Select | ENSP00000467141.1:n.50858-3C>T | |
| ENST00000591111.5:c.45935-3C>T (TTN) | ENSP00000465570.1:n.45935-3C>T | |
| ENST00000615779.4:c.45935-3C>T (TTN) | ENSP00000483597.1:n.45935-3C>T | |
| NM_001256850.1:c.45935-3C>T (TTN) | NP_001243779.1:n.45935-3C>T | |
| NM_001267550.2:c.50858-3C>T (TTN) MANE Select | NP_001254479.2:n.50858-3C>T | |
| NM_003319.4:c.23663-3C>T (TTN) | NP_003310.4:n.23663-3C>T | |
| NM_133378.4:c.43154-3C>T (TTN) | NP_596869.4:n.43154-3C>T | |
| NM_133432.3:c.24038-3C>T (TTN) | NP_597676.3:n.24038-3C>T | |
| NM_133437.4:c.24239-3C>T (TTN) | NP_597681.4:n.24239-3C>T | |
| NR_038271.1:n.783-2761G>A (TTN-AS1) | ||
| XM_011511729.1:c.49955-3C>T (TTN) | XP_011510031.1:n.49955-3C>T | |
| XM_011511730.1:c.23849-3C>T (TTN) | XP_011510032.1:n.23849-3C>T | |
| XM_011511731.1:c.23708-3C>T (TTN) | XP_011510033.1:n.23708-3C>T | |
| XM_017004819.1:c.49751-3C>T (TTN) | XP_016860308.1:n.49751-3C>T | |
| XM_017004820.1:c.45149-3C>T (TTN) | XP_016860309.1:n.45149-3C>T | |
| XM_017004821.1:c.45146-3C>T (TTN) | XP_016860310.1:n.45146-3C>T | |
| XM_017004822.1:c.42188-3C>T (TTN) | XP_016860311.1:n.42188-3C>T | |
| XM_017004823.1:c.23804-3C>T (TTN) | XP_016860312.1:n.23804-3C>T | |
| XM_024453094.1:c.45299-3C>T (TTN) | XP_024308862.1:n.45299-3C>T | |
| XM_024453095.1:c.45296-3C>T (TTN) | XP_024308863.1:n.45296-3C>T | |
| XM_024453096.1:c.44729-3C>T (TTN) | XP_024308864.1:n.44729-3C>T | |
| XM_024453097.1:c.42071-3C>T (TTN) | XP_024308865.1:n.42071-3C>T | |
| XM_024453098.1:c.41990-3C>T (TTN) | XP_024308866.1:n.41990-3C>T | |
| XM_024453099.1:c.23753-3C>T (TTN) | XP_024308867.1:n.23753-3C>T | |
| XM_024453100.1:c.13607-3C>T (TTN) | XP_024308868.1:n.13607-3C>T |