Linked Data
ClinVar Variation Id:
262340
dbSNP Id:
rs372312805
ExAC:
2:179396399 T / C
gnomAD v2:
2-179396399-T-C
gnomAD v3:
2-178531672-T-C
gnomAD v4:
2-178531672-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531672T>C , CM000664.2:g.178531672T>C | GRCh38 |
| NC_000002.11:g.179396399T>C , CM000664.1:g.179396399T>C | GRCh37 |
| NC_000002.10:g.179104645T>C | NCBI36 |
| NG_011618.3:g.304131A>G , LRG_391:g.304131A>G | |
| NG_051363.1:g.13846T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97239A>G (TTN) | ENSP00000343764.6:p.Glu32413= | |
| ENST00000342175.11:c.78324A>G (TTN) | ENSP00000340554.6:p.Glu26108= | |
| ENST00000359218.10:c.78123A>G (TTN) | ENSP00000352154.5:p.Glu26041= | |
| ENST00000342175.10:c.78324A>G (TTN) | ENSP00000340554.6:p.Glu26108= | |
| ENST00000342992.10:c.97239A>G (TTN) | ENSP00000343764.6:p.Glu32413= | |
| ENST00000359218.9:c.78123A>G (TTN) | ENSP00000352154.5:p.Glu26041= | |
| ENST00000460472.6:c.77748A>G (TTN) | ENSP00000434586.1:p.Glu25916= | |
| ENST00000589042.5:c.104943A>G (TTN) MANE Select | ENSP00000467141.1:p.Glu34981= | |
| ENST00000591111.5:c.100020A>G (TTN) | ENSP00000465570.1:p.Glu33340= | |
| ENST00000615779.4:c.100020A>G (TTN) | ENSP00000483597.1:p.Glu33340= | |
| NM_001256850.1:c.100020A>G (TTN) | NP_001243779.1:p.Glu33340= | |
| NM_001267550.2:c.104943A>G (TTN) MANE Select | NP_001254479.2:p.Glu34981= | |
| NM_003319.4:c.77748A>G (TTN) | NP_003310.4:p.Glu25916= | |
| NM_133378.4:c.97239A>G (TTN) | NP_596869.4:p.Glu32413= | |
| NM_133432.3:c.78123A>G (TTN) | NP_597676.3:p.Glu26041= | |
| NM_133437.4:c.78324A>G (TTN) | NP_597681.4:p.Glu26108= | |
| NR_038271.1:n.446+8036T>C (TTN-AS1) | ||
| NR_038272.1:n.220-4060T>C (TTN-AS1) | ||
| XM_011511729.1:c.104040A>G (TTN) | XP_011510031.1:p.Glu34680= | |
| XM_011511730.1:c.77934A>G (TTN) | XP_011510032.1:p.Glu25978= | |
| XM_011511731.1:c.77793A>G (TTN) | XP_011510033.1:p.Glu25931= | |
| XM_017004819.1:c.103836A>G (TTN) | XP_016860308.1:p.Glu34612= | |
| XM_017004820.1:c.99234A>G (TTN) | XP_016860309.1:p.Glu33078= | |
| XM_017004821.1:c.99231A>G (TTN) | XP_016860310.1:p.Glu33077= | |
| XM_017004822.1:c.96273A>G (TTN) | XP_016860311.1:p.Glu32091= | |
| XM_017004823.1:c.77889A>G (TTN) | XP_016860312.1:p.Glu25963= | |
| XM_024453094.1:c.99384A>G (TTN) | XP_024308862.1:p.Glu33128= | |
| XM_024453095.1:c.99381A>G (TTN) | XP_024308863.1:p.Glu33127= | |
| XM_024453096.1:c.98814A>G (TTN) | XP_024308864.1:p.Glu32938= | |
| XM_024453097.1:c.96156A>G (TTN) | XP_024308865.1:p.Glu32052= | |
| XM_024453098.1:c.96075A>G (TTN) | XP_024308866.1:p.Glu32025= | |
| XM_024453099.1:c.77838A>G (TTN) | XP_024308867.1:p.Glu25946= | |
| XM_024453100.1:c.67692A>G (TTN) | XP_024308868.1:p.Glu22564= |