Linked Data
ClinVar Variation Id:
264057
dbSNP Id:
rs373305832
ExAC:
2:179482968 G / A
gnomAD v2:
2-179482968-G-A
gnomAD v3:
2-178618241-G-A
gnomAD v4:
2-178618241-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178618241G>A , CM000664.2:g.178618241G>A | GRCh38 |
| NC_000002.11:g.179482968G>A , CM000664.1:g.179482968G>A | GRCh37 |
| NC_000002.10:g.179191213G>A | NCBI36 |
| NG_011618.3:g.217562C>T , LRG_391:g.217562C>T | |
| NG_051363.1:g.100415G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.39513C>T (TTN) | ENSP00000343764.6:p.Gly13171= | |
| ENST00000342175.11:c.20598C>T (TTN) | ENSP00000340554.6:p.Gly6866= | |
| ENST00000359218.10:c.20397C>T (TTN) | ENSP00000352154.5:p.Gly6799= | |
| ENST00000342175.10:c.20598C>T (TTN) | ENSP00000340554.6:p.Gly6866= | |
| ENST00000342992.10:c.39513C>T (TTN) | ENSP00000343764.6:p.Gly13171= | |
| ENST00000359218.9:c.20397C>T (TTN) | ENSP00000352154.5:p.Gly6799= | |
| ENST00000460472.6:c.20022C>T (TTN) | ENSP00000434586.1:p.Gly6674= | |
| ENST00000589042.5:c.47217C>T (TTN) MANE Select | ENSP00000467141.1:p.Gly15739= | |
| ENST00000591111.5:c.42294C>T (TTN) | ENSP00000465570.1:p.Gly14098= | |
| ENST00000615779.4:c.42294C>T (TTN) | ENSP00000483597.1:p.Gly14098= | |
| NM_001256850.1:c.42294C>T (TTN) | NP_001243779.1:p.Gly14098= | |
| NM_001267550.2:c.47217C>T (TTN) MANE Select | NP_001254479.2:p.Gly15739= | |
| NM_003319.4:c.20022C>T (TTN) | NP_003310.4:p.Gly6674= | |
| NM_133378.4:c.39513C>T (TTN) | NP_596869.4:p.Gly13171= | |
| NM_133432.3:c.20397C>T (TTN) | NP_597676.3:p.Gly6799= | |
| NM_133437.4:c.20598C>T (TTN) | NP_597681.4:p.Gly6866= | |
| NR_038271.1:n.1605-1512G>A (TTN-AS1) | ||
| XM_011511729.1:c.46314C>T (TTN) | XP_011510031.1:p.Gly15438= | |
| XM_011511730.1:c.20208C>T (TTN) | XP_011510032.1:p.Gly6736= | |
| XM_011511731.1:c.20067C>T (TTN) | XP_011510033.1:p.Gly6689= | |
| XM_017004819.1:c.46110C>T (TTN) | XP_016860308.1:p.Gly15370= | |
| XM_017004820.1:c.41508C>T (TTN) | XP_016860309.1:p.Gly13836= | |
| XM_017004821.1:c.41505C>T (TTN) | XP_016860310.1:p.Gly13835= | |
| XM_017004822.1:c.38547C>T (TTN) | XP_016860311.1:p.Gly12849= | |
| XM_017004823.1:c.20163C>T (TTN) | XP_016860312.1:p.Gly6721= | |
| XM_024453094.1:c.41658C>T (TTN) | XP_024308862.1:p.Gly13886= | |
| XM_024453095.1:c.41655C>T (TTN) | XP_024308863.1:p.Gly13885= | |
| XM_024453096.1:c.41088C>T (TTN) | XP_024308864.1:p.Gly13696= | |
| XM_024453097.1:c.38430C>T (TTN) | XP_024308865.1:p.Gly12810= | |
| XM_024453098.1:c.38349C>T (TTN) | XP_024308866.1:p.Gly12783= | |
| XM_024453099.1:c.20112C>T (TTN) | XP_024308867.1:p.Gly6704= | |
| XM_024453100.1:c.9966C>T (TTN) | XP_024308868.1:p.Gly3322= |