Linked Data
ClinVar Variation Id:
229575
dbSNP Id:
rs201298767
ExAC:
2:179392182 C / T
gnomAD v2:
2-179392182-C-T
gnomAD v3:
2-178527455-C-T
gnomAD v4:
2-178527455-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527455C>T , CM000664.2:g.178527455C>T | GRCh38 |
| NC_000002.11:g.179392182C>T , CM000664.1:g.179392182C>T | GRCh37 |
| NC_000002.10:g.179100428C>T | NCBI36 |
| NG_011618.3:g.308348G>A , LRG_391:g.308348G>A | |
| NG_051363.1:g.9629C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99967G>A (TTN) | ENSP00000343764.6:p.Gly33323Ser | |
| ENST00000342175.11:c.81052G>A (TTN) | ENSP00000340554.6:p.Gly27018Ser | |
| ENST00000359218.10:c.80851G>A (TTN) | ENSP00000352154.5:p.Gly26951Ser | |
| ENST00000342175.10:c.81052G>A (TTN) | ENSP00000340554.6:p.Gly27018Ser | |
| ENST00000342992.10:c.99967G>A (TTN) | ENSP00000343764.6:p.Gly33323Ser | |
| ENST00000359218.9:c.80851G>A (TTN) | ENSP00000352154.5:p.Gly26951Ser | |
| ENST00000460472.6:c.80476G>A (TTN) | ENSP00000434586.1:p.Gly26826Ser | |
| ENST00000589042.5:c.107671G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly35891Ser | |
| ENST00000591111.5:c.102748G>A (TTN) | ENSP00000465570.1:p.Gly34250Ser | |
| ENST00000615779.4:c.102748G>A (TTN) | ENSP00000483597.1:p.Gly34250Ser | |
| NM_001256850.1:c.102748G>A (TTN) | NP_001243779.1:p.Gly34250Ser | |
| NM_001267550.2:c.107671G>A (TTN) MANE Select | NP_001254479.2:p.Gly35891Ser | |
| NM_003319.4:c.80476G>A (TTN) | NP_003310.4:p.Gly26826Ser | |
| NM_133378.4:c.99967G>A (TTN) | NP_596869.4:p.Gly33323Ser | |
| NM_133432.3:c.80851G>A (TTN) | NP_597676.3:p.Gly26951Ser | |
| NM_133437.4:c.81052G>A (TTN) | NP_597681.4:p.Gly27018Ser | |
| NR_038271.1:n.446+3819C>T (TTN-AS1) | ||
| NR_038272.1:n.219+3819C>T (TTN-AS1) | ||
| XM_011511729.1:c.106768G>A (TTN) | XP_011510031.1:p.Gly35590Ser | |
| XM_011511730.1:c.80662G>A (TTN) | XP_011510032.1:p.Gly26888Ser | |
| XM_011511731.1:c.80521G>A (TTN) | XP_011510033.1:p.Gly26841Ser | |
| XM_017004819.1:c.106564G>A (TTN) | XP_016860308.1:p.Gly35522Ser | |
| XM_017004820.1:c.101962G>A (TTN) | XP_016860309.1:p.Gly33988Ser | |
| XM_017004821.1:c.101959G>A (TTN) | XP_016860310.1:p.Gly33987Ser | |
| XM_017004822.1:c.99001G>A (TTN) | XP_016860311.1:p.Gly33001Ser | |
| XM_017004823.1:c.80617G>A (TTN) | XP_016860312.1:p.Gly26873Ser | |
| XM_024453094.1:c.102112G>A (TTN) | XP_024308862.1:p.Gly34038Ser | |
| XM_024453095.1:c.102109G>A (TTN) | XP_024308863.1:p.Gly34037Ser | |
| XM_024453096.1:c.101542G>A (TTN) | XP_024308864.1:p.Gly33848Ser | |
| XM_024453097.1:c.98884G>A (TTN) | XP_024308865.1:p.Gly32962Ser | |
| XM_024453098.1:c.98803G>A (TTN) | XP_024308866.1:p.Gly32935Ser | |
| XM_024453099.1:c.80566G>A (TTN) | XP_024308867.1:p.Gly26856Ser | |
| XM_024453100.1:c.70420G>A (TTN) | XP_024308868.1:p.Gly23474Ser |