Linked Data
ClinVar Variation Id:
286254
dbSNP Id:
rs776786546
ExAC:
2:179395490 G / C
gnomAD v2:
2-179395490-G-C
gnomAD v3:
2-178530763-G-C
gnomAD v4:
2-178530763-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530763G>C , CM000664.2:g.178530763G>C | GRCh38 |
| NC_000002.11:g.179395490G>C , CM000664.1:g.179395490G>C | GRCh37 |
| NC_000002.10:g.179103736G>C | NCBI36 |
| NG_011618.3:g.305040C>G , LRG_391:g.305040C>G | |
| NG_051363.1:g.12937G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98148C>G (TTN) | ENSP00000343764.6:p.Ala32716= | |
| ENST00000342175.11:c.79233C>G (TTN) | ENSP00000340554.6:p.Ala26411= | |
| ENST00000359218.10:c.79032C>G (TTN) | ENSP00000352154.5:p.Ala26344= | |
| ENST00000342175.10:c.79233C>G (TTN) | ENSP00000340554.6:p.Ala26411= | |
| ENST00000342992.10:c.98148C>G (TTN) | ENSP00000343764.6:p.Ala32716= | |
| ENST00000359218.9:c.79032C>G (TTN) | ENSP00000352154.5:p.Ala26344= | |
| ENST00000460472.6:c.78657C>G (TTN) | ENSP00000434586.1:p.Ala26219= | |
| ENST00000589042.5:c.105852C>G (TTN) MANE Select | ENSP00000467141.1:p.Ala35284= | |
| ENST00000591111.5:c.100929C>G (TTN) | ENSP00000465570.1:p.Ala33643= | |
| ENST00000615779.4:c.100929C>G (TTN) | ENSP00000483597.1:p.Ala33643= | |
| NM_001256850.1:c.100929C>G (TTN) | NP_001243779.1:p.Ala33643= | |
| NM_001267550.2:c.105852C>G (TTN) MANE Select | NP_001254479.2:p.Ala35284= | |
| NM_003319.4:c.78657C>G (TTN) | NP_003310.4:p.Ala26219= | |
| NM_133378.4:c.98148C>G (TTN) | NP_596869.4:p.Ala32716= | |
| NM_133432.3:c.79032C>G (TTN) | NP_597676.3:p.Ala26344= | |
| NM_133437.4:c.79233C>G (TTN) | NP_597681.4:p.Ala26411= | |
| NR_038271.1:n.446+7127G>C (TTN-AS1) | ||
| NR_038272.1:n.220-4969G>C (TTN-AS1) | ||
| XM_011511729.1:c.104949C>G (TTN) | XP_011510031.1:p.Ala34983= | |
| XM_011511730.1:c.78843C>G (TTN) | XP_011510032.1:p.Ala26281= | |
| XM_011511731.1:c.78702C>G (TTN) | XP_011510033.1:p.Ala26234= | |
| XM_017004819.1:c.104745C>G (TTN) | XP_016860308.1:p.Ala34915= | |
| XM_017004820.1:c.100143C>G (TTN) | XP_016860309.1:p.Ala33381= | |
| XM_017004821.1:c.100140C>G (TTN) | XP_016860310.1:p.Ala33380= | |
| XM_017004822.1:c.97182C>G (TTN) | XP_016860311.1:p.Ala32394= | |
| XM_017004823.1:c.78798C>G (TTN) | XP_016860312.1:p.Ala26266= | |
| XM_024453094.1:c.100293C>G (TTN) | XP_024308862.1:p.Ala33431= | |
| XM_024453095.1:c.100290C>G (TTN) | XP_024308863.1:p.Ala33430= | |
| XM_024453096.1:c.99723C>G (TTN) | XP_024308864.1:p.Ala33241= | |
| XM_024453097.1:c.97065C>G (TTN) | XP_024308865.1:p.Ala32355= | |
| XM_024453098.1:c.96984C>G (TTN) | XP_024308866.1:p.Ala32328= | |
| XM_024453099.1:c.78747C>G (TTN) | XP_024308867.1:p.Ala26249= | |
| XM_024453100.1:c.68601C>G (TTN) | XP_024308868.1:p.Ala22867= |