Linked Data
ClinVar Variation Id:
507403
dbSNP Id:
rs780536141
ExAC:
2:179462308 A / G
gnomAD v2:
2-179462308-A-G
gnomAD v3:
2-178597581-A-G
gnomAD v4:
2-178597581-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178597581A>G , CM000664.2:g.178597581A>G | GRCh38 |
| NC_000002.11:g.179462308A>G , CM000664.1:g.179462308A>G | GRCh37 |
| NC_000002.10:g.179170553A>G | NCBI36 |
| NG_011618.3:g.238222T>C , LRG_391:g.238222T>C | |
| NG_051363.1:g.79755A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49797T>C (TTN) | ENSP00000343764.6:p.Asn16599= | |
| ENST00000342175.11:c.30882T>C (TTN) | ENSP00000340554.6:p.Asn10294= | |
| ENST00000359218.10:c.30681T>C (TTN) | ENSP00000352154.5:p.Asn10227= | |
| ENST00000342175.10:c.30882T>C (TTN) | ENSP00000340554.6:p.Asn10294= | |
| ENST00000342992.10:c.49797T>C (TTN) | ENSP00000343764.6:p.Asn16599= | |
| ENST00000359218.9:c.30681T>C (TTN) | ENSP00000352154.5:p.Asn10227= | |
| ENST00000460472.6:c.30306T>C (TTN) | ENSP00000434586.1:p.Asn10102= | |
| ENST00000589042.5:c.57501T>C (TTN) MANE Select | ENSP00000467141.1:p.Asn19167= | |
| ENST00000591111.5:c.52578T>C (TTN) | ENSP00000465570.1:p.Asn17526= | |
| ENST00000615779.4:c.52578T>C (TTN) | ENSP00000483597.1:p.Asn17526= | |
| NM_001256850.1:c.52578T>C (TTN) | NP_001243779.1:p.Asn17526= | |
| NM_001267550.2:c.57501T>C (TTN) MANE Select | NP_001254479.2:p.Asn19167= | |
| NM_003319.4:c.30306T>C (TTN) | NP_003310.4:p.Asn10102= | |
| NM_133378.4:c.49797T>C (TTN) | NP_596869.4:p.Asn16599= | |
| NM_133432.3:c.30681T>C (TTN) | NP_597676.3:p.Asn10227= | |
| NM_133437.4:c.30882T>C (TTN) | NP_597681.4:p.Asn10294= | |
| NR_038271.1:n.597-15A>G (TTN-AS1) | ||
| NR_038272.1:n.3365-15A>G (TTN-AS1) | ||
| XM_011511729.1:c.56598T>C (TTN) | XP_011510031.1:p.Asn18866= | |
| XM_011511730.1:c.30492T>C (TTN) | XP_011510032.1:p.Asn10164= | |
| XM_011511731.1:c.30351T>C (TTN) | XP_011510033.1:p.Asn10117= | |
| XM_017004819.1:c.56394T>C (TTN) | XP_016860308.1:p.Asn18798= | |
| XM_017004820.1:c.51792T>C (TTN) | XP_016860309.1:p.Asn17264= | |
| XM_017004821.1:c.51789T>C (TTN) | XP_016860310.1:p.Asn17263= | |
| XM_017004822.1:c.48831T>C (TTN) | XP_016860311.1:p.Asn16277= | |
| XM_017004823.1:c.30447T>C (TTN) | XP_016860312.1:p.Asn10149= | |
| XM_024453094.1:c.51942T>C (TTN) | XP_024308862.1:p.Asn17314= | |
| XM_024453095.1:c.51939T>C (TTN) | XP_024308863.1:p.Asn17313= | |
| XM_024453096.1:c.51372T>C (TTN) | XP_024308864.1:p.Asn17124= | |
| XM_024453097.1:c.48714T>C (TTN) | XP_024308865.1:p.Asn16238= | |
| XM_024453098.1:c.48633T>C (TTN) | XP_024308866.1:p.Asn16211= | |
| XM_024453099.1:c.30396T>C (TTN) | XP_024308867.1:p.Asn10132= | |
| XM_024453100.1:c.20250T>C (TTN) | XP_024308868.1:p.Asn6750= |