Linked Data
ClinVar Variation Id:
498006
dbSNP Id:
rs372776235
ExAC:
2:179422898 G / A
gnomAD v2:
2-179422898-G-A
gnomAD v3:
2-178558171-G-A
gnomAD v4:
2-178558171-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178558171G>A , CM000664.2:g.178558171G>A | GRCh38 |
| NC_000002.11:g.179422898G>A , CM000664.1:g.179422898G>A | GRCh37 |
| NC_000002.10:g.179131144G>A | NCBI36 |
| NG_011618.3:g.277632C>T , LRG_391:g.277632C>T | |
| NG_051363.1:g.40345G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79479C>T (TTN) | ENSP00000343764.6:p.Asn26493= | |
| ENST00000342175.11:c.60564C>T (TTN) | ENSP00000340554.6:p.Asn20188= | |
| ENST00000359218.10:c.60363C>T (TTN) | ENSP00000352154.5:p.Asn20121= | |
| ENST00000342175.10:c.60564C>T (TTN) | ENSP00000340554.6:p.Asn20188= | |
| ENST00000342992.10:c.79479C>T (TTN) | ENSP00000343764.6:p.Asn26493= | |
| ENST00000359218.9:c.60363C>T (TTN) | ENSP00000352154.5:p.Asn20121= | |
| ENST00000460472.6:c.59988C>T (TTN) | ENSP00000434586.1:p.Asn19996= | |
| ENST00000589042.5:c.87183C>T (TTN) MANE Select | ENSP00000467141.1:p.Asn29061= | |
| ENST00000591111.5:c.82260C>T (TTN) | ENSP00000465570.1:p.Asn27420= | |
| ENST00000615779.4:c.82260C>T (TTN) | ENSP00000483597.1:p.Asn27420= | |
| NM_001256850.1:c.82260C>T (TTN) | NP_001243779.1:p.Asn27420= | |
| NM_001267550.2:c.87183C>T (TTN) MANE Select | NP_001254479.2:p.Asn29061= | |
| NM_003319.4:c.59988C>T (TTN) | NP_003310.4:p.Asn19996= | |
| NM_133378.4:c.79479C>T (TTN) | NP_596869.4:p.Asn26493= | |
| NM_133432.3:c.60363C>T (TTN) | NP_597676.3:p.Asn20121= | |
| NM_133437.4:c.60564C>T (TTN) | NP_597681.4:p.Asn20188= | |
| NR_038271.1:n.447-13129G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+15810G>A (TTN-AS1) | ||
| XM_011511729.1:c.86280C>T (TTN) | XP_011510031.1:p.Asn28760= | |
| XM_011511730.1:c.60174C>T (TTN) | XP_011510032.1:p.Asn20058= | |
| XM_011511731.1:c.60033C>T (TTN) | XP_011510033.1:p.Asn20011= | |
| XM_017004819.1:c.86076C>T (TTN) | XP_016860308.1:p.Asn28692= | |
| XM_017004820.1:c.81474C>T (TTN) | XP_016860309.1:p.Asn27158= | |
| XM_017004821.1:c.81471C>T (TTN) | XP_016860310.1:p.Asn27157= | |
| XM_017004822.1:c.78513C>T (TTN) | XP_016860311.1:p.Asn26171= | |
| XM_017004823.1:c.60129C>T (TTN) | XP_016860312.1:p.Asn20043= | |
| XM_024453094.1:c.81624C>T (TTN) | XP_024308862.1:p.Asn27208= | |
| XM_024453095.1:c.81621C>T (TTN) | XP_024308863.1:p.Asn27207= | |
| XM_024453096.1:c.81054C>T (TTN) | XP_024308864.1:p.Asn27018= | |
| XM_024453097.1:c.78396C>T (TTN) | XP_024308865.1:p.Asn26132= | |
| XM_024453098.1:c.78315C>T (TTN) | XP_024308866.1:p.Asn26105= | |
| XM_024453099.1:c.60078C>T (TTN) | XP_024308867.1:p.Asn20026= | |
| XM_024453100.1:c.49932C>T (TTN) | XP_024308868.1:p.Asn16644= |