Linked Data
ClinVar Variation Id:
284100
dbSNP Id:
rs371678936
ExAC:
2:179418855 G / A
gnomAD v2:
2-179418855-G-A
gnomAD v3:
2-178554128-G-A
gnomAD v4:
2-178554128-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178554128G>A , CM000664.2:g.178554128G>A | GRCh38 |
| NC_000002.11:g.179418855G>A , CM000664.1:g.179418855G>A | GRCh37 |
| NC_000002.10:g.179127101G>A | NCBI36 |
| NG_011618.3:g.281675C>T , LRG_391:g.281675C>T | |
| NG_051363.1:g.36302G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.81279C>T (TTN) | ENSP00000343764.6:p.Gly27093= | |
| ENST00000342175.11:c.62364C>T (TTN) | ENSP00000340554.6:p.Gly20788= | |
| ENST00000359218.10:c.62163C>T (TTN) | ENSP00000352154.5:p.Gly20721= | |
| ENST00000342175.10:c.62364C>T (TTN) | ENSP00000340554.6:p.Gly20788= | |
| ENST00000342992.10:c.81279C>T (TTN) | ENSP00000343764.6:p.Gly27093= | |
| ENST00000359218.9:c.62163C>T (TTN) | ENSP00000352154.5:p.Gly20721= | |
| ENST00000460472.6:c.61788C>T (TTN) | ENSP00000434586.1:p.Gly20596= | |
| ENST00000589042.5:c.88983C>T (TTN) MANE Select | ENSP00000467141.1:p.Gly29661= | |
| ENST00000591111.5:c.84060C>T (TTN) | ENSP00000465570.1:p.Gly28020= | |
| ENST00000615779.4:c.84060C>T (TTN) | ENSP00000483597.1:p.Gly28020= | |
| NM_001256850.1:c.84060C>T (TTN) | NP_001243779.1:p.Gly28020= | |
| NM_001267550.2:c.88983C>T (TTN) MANE Select | NP_001254479.2:p.Gly29661= | |
| NM_003319.4:c.61788C>T (TTN) | NP_003310.4:p.Gly20596= | |
| NM_133378.4:c.81279C>T (TTN) | NP_596869.4:p.Gly27093= | |
| NM_133432.3:c.62163C>T (TTN) | NP_597676.3:p.Gly20721= | |
| NM_133437.4:c.62364C>T (TTN) | NP_597681.4:p.Gly20788= | |
| NR_038271.1:n.447-17172G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+11767G>A (TTN-AS1) | ||
| XM_011511729.1:c.88080C>T (TTN) | XP_011510031.1:p.Gly29360= | |
| XM_011511730.1:c.61974C>T (TTN) | XP_011510032.1:p.Gly20658= | |
| XM_011511731.1:c.61833C>T (TTN) | XP_011510033.1:p.Gly20611= | |
| XM_017004819.1:c.87876C>T (TTN) | XP_016860308.1:p.Gly29292= | |
| XM_017004820.1:c.83274C>T (TTN) | XP_016860309.1:p.Gly27758= | |
| XM_017004821.1:c.83271C>T (TTN) | XP_016860310.1:p.Gly27757= | |
| XM_017004822.1:c.80313C>T (TTN) | XP_016860311.1:p.Gly26771= | |
| XM_017004823.1:c.61929C>T (TTN) | XP_016860312.1:p.Gly20643= | |
| XM_024453094.1:c.83424C>T (TTN) | XP_024308862.1:p.Gly27808= | |
| XM_024453095.1:c.83421C>T (TTN) | XP_024308863.1:p.Gly27807= | |
| XM_024453096.1:c.82854C>T (TTN) | XP_024308864.1:p.Gly27618= | |
| XM_024453097.1:c.80196C>T (TTN) | XP_024308865.1:p.Gly26732= | |
| XM_024453098.1:c.80115C>T (TTN) | XP_024308866.1:p.Gly26705= | |
| XM_024453099.1:c.61878C>T (TTN) | XP_024308867.1:p.Gly20626= | |
| XM_024453100.1:c.51732C>T (TTN) | XP_024308868.1:p.Gly17244= |