Linked Data
ClinVar Variation Id:
332818
ClinVar RCV Id:
RCV000265408
RCV000398857
RCV000358355
RCV000306892
RCV000310552
RCV001375616
RCV003137950
RCV002460068
RCV003486817
RCV004544611
RCV000557466
dbSNP Id:
rs377529060
ExAC:
2:179455176 G / A
gnomAD v2:
2-179455176-G-A
gnomAD v3:
2-178590449-G-A
gnomAD v4:
2-178590449-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178590449G>A , CM000664.2:g.178590449G>A | GRCh38 |
| NC_000002.11:g.179455176G>A , CM000664.1:g.179455176G>A | GRCh37 |
| NC_000002.10:g.179163422G>A | NCBI36 |
| NG_011618.3:g.245354C>T , LRG_391:g.245354C>T | |
| NG_051363.1:g.72623G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.53572C>T (TTN) | ENSP00000343764.6:p.Leu17858Phe | |
| ENST00000342175.11:c.34657C>T (TTN) | ENSP00000340554.6:p.Leu11553Phe | |
| ENST00000359218.10:c.34456C>T (TTN) | ENSP00000352154.5:p.Leu11486Phe | |
| ENST00000342175.10:c.34657C>T (TTN) | ENSP00000340554.6:p.Leu11553Phe | |
| ENST00000342992.10:c.53572C>T (TTN) | ENSP00000343764.6:p.Leu17858Phe | |
| ENST00000359218.9:c.34456C>T (TTN) | ENSP00000352154.5:p.Leu11486Phe | |
| ENST00000460472.6:c.34081C>T (TTN) | ENSP00000434586.1:p.Leu11361Phe | |
| ENST00000589042.5:c.61276C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu20426Phe | |
| ENST00000591111.5:c.56353C>T (TTN) | ENSP00000465570.1:p.Leu18785Phe | |
| ENST00000615779.4:c.56353C>T (TTN) | ENSP00000483597.1:p.Leu18785Phe | |
| NM_001256850.1:c.56353C>T (TTN) | NP_001243779.1:p.Leu18785Phe | |
| NM_001267550.2:c.61276C>T (TTN) MANE Select | NP_001254479.2:p.Leu20426Phe | |
| NM_003319.4:c.34081C>T (TTN) | NP_003310.4:p.Leu11361Phe | |
| NM_133378.4:c.53572C>T (TTN) | NP_596869.4:p.Leu17858Phe | |
| NM_133432.3:c.34456C>T (TTN) | NP_597676.3:p.Leu11486Phe | |
| NM_133437.4:c.34657C>T (TTN) | NP_597681.4:p.Leu11553Phe | |
| NR_038271.1:n.597-7147G>A (TTN-AS1) | ||
| NR_038272.1:n.3189-690G>A (TTN-AS1) | ||
| XM_011511729.1:c.60373C>T (TTN) | XP_011510031.1:p.Leu20125Phe | |
| XM_011511730.1:c.34267C>T (TTN) | XP_011510032.1:p.Leu11423Phe | |
| XM_011511731.1:c.34126C>T (TTN) | XP_011510033.1:p.Leu11376Phe | |
| XM_017004819.1:c.60169C>T (TTN) | XP_016860308.1:p.Leu20057Phe | |
| XM_017004820.1:c.55567C>T (TTN) | XP_016860309.1:p.Leu18523Phe | |
| XM_017004821.1:c.55564C>T (TTN) | XP_016860310.1:p.Leu18522Phe | |
| XM_017004822.1:c.52606C>T (TTN) | XP_016860311.1:p.Leu17536Phe | |
| XM_017004823.1:c.34222C>T (TTN) | XP_016860312.1:p.Leu11408Phe | |
| XM_024453094.1:c.55717C>T (TTN) | XP_024308862.1:p.Leu18573Phe | |
| XM_024453095.1:c.55714C>T (TTN) | XP_024308863.1:p.Leu18572Phe | |
| XM_024453096.1:c.55147C>T (TTN) | XP_024308864.1:p.Leu18383Phe | |
| XM_024453097.1:c.52489C>T (TTN) | XP_024308865.1:p.Leu17497Phe | |
| XM_024453098.1:c.52408C>T (TTN) | XP_024308866.1:p.Leu17470Phe | |
| XM_024453099.1:c.34171C>T (TTN) | XP_024308867.1:p.Leu11391Phe | |
| XM_024453100.1:c.24025C>T (TTN) | XP_024308868.1:p.Leu8009Phe |