Linked Data
ClinVar Variation Id:
47384
ClinVar RCV Id:
RCV000040654
RCV000249905
RCV000302475
RCV000306368
RCV000342552
RCV000359525
RCV000399521
RCV000465955
RCV001170789
RCV001529926
dbSNP Id:
rs199875474
ExAC:
2:179430588 G / A
gnomAD v2:
2-179430588-G-A
gnomAD v3:
2-178565861-G-A
gnomAD v4:
2-178565861-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565861G>A , CM000664.2:g.178565861G>A | GRCh38 |
| NC_000002.11:g.179430588G>A , CM000664.1:g.179430588G>A | GRCh37 |
| NC_000002.10:g.179138834G>A | NCBI36 |
| NG_011618.3:g.269942C>T , LRG_391:g.269942C>T | |
| NG_051363.1:g.48035G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.72567C>T (TTN) | ENSP00000343764.6:p.Val24189= | |
| ENST00000342175.11:c.53652C>T (TTN) | ENSP00000340554.6:p.Val17884= | |
| ENST00000359218.10:c.53451C>T (TTN) | ENSP00000352154.5:p.Val17817= | |
| ENST00000342175.10:c.53652C>T (TTN) | ENSP00000340554.6:p.Val17884= | |
| ENST00000342992.10:c.72567C>T (TTN) | ENSP00000343764.6:p.Val24189= | |
| ENST00000359218.9:c.53451C>T (TTN) | ENSP00000352154.5:p.Val17817= | |
| ENST00000460472.6:c.53076C>T (TTN) | ENSP00000434586.1:p.Val17692= | |
| ENST00000589042.5:c.80271C>T (TTN) MANE Select | ENSP00000467141.1:p.Val26757= | |
| ENST00000591111.5:c.75348C>T (TTN) | ENSP00000465570.1:p.Val25116= | |
| ENST00000615779.4:c.75348C>T (TTN) | ENSP00000483597.1:p.Val25116= | |
| NM_001256850.1:c.75348C>T (TTN) | NP_001243779.1:p.Val25116= | |
| NM_001267550.2:c.80271C>T (TTN) MANE Select | NP_001254479.2:p.Val26757= | |
| NM_003319.4:c.53076C>T (TTN) | NP_003310.4:p.Val17692= | |
| NM_133378.4:c.72567C>T (TTN) | NP_596869.4:p.Val24189= | |
| NM_133432.3:c.53451C>T (TTN) | NP_597676.3:p.Val17817= | |
| NM_133437.4:c.53652C>T (TTN) | NP_597681.4:p.Val17884= | |
| NR_038271.1:n.447-5439G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-16711G>A (TTN-AS1) | ||
| XM_011511729.1:c.79368C>T (TTN) | XP_011510031.1:p.Val26456= | |
| XM_011511730.1:c.53262C>T (TTN) | XP_011510032.1:p.Val17754= | |
| XM_011511731.1:c.53121C>T (TTN) | XP_011510033.1:p.Val17707= | |
| XM_017004819.1:c.79164C>T (TTN) | XP_016860308.1:p.Val26388= | |
| XM_017004820.1:c.74562C>T (TTN) | XP_016860309.1:p.Val24854= | |
| XM_017004821.1:c.74559C>T (TTN) | XP_016860310.1:p.Val24853= | |
| XM_017004822.1:c.71601C>T (TTN) | XP_016860311.1:p.Val23867= | |
| XM_017004823.1:c.53217C>T (TTN) | XP_016860312.1:p.Val17739= | |
| XM_024453094.1:c.74712C>T (TTN) | XP_024308862.1:p.Val24904= | |
| XM_024453095.1:c.74709C>T (TTN) | XP_024308863.1:p.Val24903= | |
| XM_024453096.1:c.74142C>T (TTN) | XP_024308864.1:p.Val24714= | |
| XM_024453097.1:c.71484C>T (TTN) | XP_024308865.1:p.Val23828= | |
| XM_024453098.1:c.71403C>T (TTN) | XP_024308866.1:p.Val23801= | |
| XM_024453099.1:c.53166C>T (TTN) | XP_024308867.1:p.Val17722= | |
| XM_024453100.1:c.43020C>T (TTN) | XP_024308868.1:p.Val14340= |