Linked Data
ClinVar Variation Id:
47555
ClinVar RCV Id:
RCV000040824
RCV000082453
RCV000620998
RCV000852787
RCV001082921
RCV001134487
RCV001798200
RCV001135944
RCV001135945
RCV001135946
RCV001135947
dbSNP Id:
rs191484894
ExAC:
2:179410666 G / A
gnomAD v2:
2-179410666-G-A
gnomAD v3:
2-178545939-G-A
gnomAD v4:
2-178545939-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178545939G>A , CM000664.2:g.178545939G>A | GRCh38 |
| NC_000002.11:g.179410666G>A , CM000664.1:g.179410666G>A | GRCh37 |
| NC_000002.10:g.179118912G>A | NCBI36 |
| NG_011618.3:g.289864C>T , LRG_391:g.289864C>T | |
| NG_051363.1:g.28113G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87593C>T (TTN) | ENSP00000343764.6:p.Ser29198Phe | |
| ENST00000342175.11:c.68678C>T (TTN) | ENSP00000340554.6:p.Ser22893Phe | |
| ENST00000359218.10:c.68477C>T (TTN) | ENSP00000352154.5:p.Ser22826Phe | |
| ENST00000342175.10:c.68678C>T (TTN) | ENSP00000340554.6:p.Ser22893Phe | |
| ENST00000342992.10:c.87593C>T (TTN) | ENSP00000343764.6:p.Ser29198Phe | |
| ENST00000359218.9:c.68477C>T (TTN) | ENSP00000352154.5:p.Ser22826Phe | |
| ENST00000460472.6:c.68102C>T (TTN) | ENSP00000434586.1:p.Ser22701Phe | |
| ENST00000589042.5:c.95297C>T (TTN) MANE Select | ENSP00000467141.1:p.Ser31766Phe | |
| ENST00000591111.5:c.90374C>T (TTN) | ENSP00000465570.1:p.Ser30125Phe | |
| ENST00000615779.4:c.90374C>T (TTN) | ENSP00000483597.1:p.Ser30125Phe | |
| NM_001256850.1:c.90374C>T (TTN) | NP_001243779.1:p.Ser30125Phe | |
| NM_001267550.2:c.95297C>T (TTN) MANE Select | NP_001254479.2:p.Ser31766Phe | |
| NM_003319.4:c.68102C>T (TTN) | NP_003310.4:p.Ser22701Phe | |
| NM_133378.4:c.87593C>T (TTN) | NP_596869.4:p.Ser29198Phe | |
| NM_133432.3:c.68477C>T (TTN) | NP_597676.3:p.Ser22826Phe | |
| NM_133437.4:c.68678C>T (TTN) | NP_597681.4:p.Ser22893Phe | |
| NR_038271.1:n.446+22303G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+3578G>A (TTN-AS1) | ||
| XM_011511729.1:c.94394C>T (TTN) | XP_011510031.1:p.Ser31465Phe | |
| XM_011511730.1:c.68288C>T (TTN) | XP_011510032.1:p.Ser22763Phe | |
| XM_011511731.1:c.68147C>T (TTN) | XP_011510033.1:p.Ser22716Phe | |
| XM_017004819.1:c.94190C>T (TTN) | XP_016860308.1:p.Ser31397Phe | |
| XM_017004820.1:c.89588C>T (TTN) | XP_016860309.1:p.Ser29863Phe | |
| XM_017004821.1:c.89585C>T (TTN) | XP_016860310.1:p.Ser29862Phe | |
| XM_017004822.1:c.86627C>T (TTN) | XP_016860311.1:p.Ser28876Phe | |
| XM_017004823.1:c.68243C>T (TTN) | XP_016860312.1:p.Ser22748Phe | |
| XM_024453094.1:c.89738C>T (TTN) | XP_024308862.1:p.Ser29913Phe | |
| XM_024453095.1:c.89735C>T (TTN) | XP_024308863.1:p.Ser29912Phe | |
| XM_024453096.1:c.89168C>T (TTN) | XP_024308864.1:p.Ser29723Phe | |
| XM_024453097.1:c.86510C>T (TTN) | XP_024308865.1:p.Ser28837Phe | |
| XM_024453098.1:c.86429C>T (TTN) | XP_024308866.1:p.Ser28810Phe | |
| XM_024453099.1:c.68192C>T (TTN) | XP_024308867.1:p.Ser22731Phe | |
| XM_024453100.1:c.58046C>T (TTN) | XP_024308868.1:p.Ser19349Phe |