Linked Data
ClinVar Variation Id:
203019
dbSNP Id:
rs191786700
ExAC:
2:179408940 C / T
gnomAD v2:
2-179408940-C-T
gnomAD v3:
2-178544213-C-T
gnomAD v4:
2-178544213-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544213C>T , CM000664.2:g.178544213C>T | GRCh38 |
| NC_000002.11:g.179408940C>T , CM000664.1:g.179408940C>T | GRCh37 |
| NC_000002.10:g.179117186C>T | NCBI36 |
| NG_011618.3:g.291590G>A , LRG_391:g.291590G>A | |
| NG_051363.1:g.26387C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88312G>A (TTN) | ENSP00000343764.6:p.Val29438Met | |
| ENST00000342175.11:c.69397G>A (TTN) | ENSP00000340554.6:p.Val23133Met | |
| ENST00000359218.10:c.69196G>A (TTN) | ENSP00000352154.5:p.Val23066Met | |
| ENST00000342175.10:c.69397G>A (TTN) | ENSP00000340554.6:p.Val23133Met | |
| ENST00000342992.10:c.88312G>A (TTN) | ENSP00000343764.6:p.Val29438Met | |
| ENST00000359218.9:c.69196G>A (TTN) | ENSP00000352154.5:p.Val23066Met | |
| ENST00000460472.6:c.68821G>A (TTN) | ENSP00000434586.1:p.Val22941Met | |
| ENST00000589042.5:c.96016G>A (TTN) MANE Select | ENSP00000467141.1:p.Val32006Met | |
| ENST00000591111.5:c.91093G>A (TTN) | ENSP00000465570.1:p.Val30365Met | |
| ENST00000615779.4:c.91093G>A (TTN) | ENSP00000483597.1:p.Val30365Met | |
| NM_001256850.1:c.91093G>A (TTN) | NP_001243779.1:p.Val30365Met | |
| NM_001267550.2:c.96016G>A (TTN) MANE Select | NP_001254479.2:p.Val32006Met | |
| NM_003319.4:c.68821G>A (TTN) | NP_003310.4:p.Val22941Met | |
| NM_133378.4:c.88312G>A (TTN) | NP_596869.4:p.Val29438Met | |
| NM_133432.3:c.69196G>A (TTN) | NP_597676.3:p.Val23066Met | |
| NM_133437.4:c.69397G>A (TTN) | NP_597681.4:p.Val23133Met | |
| NR_038271.1:n.446+20577C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+1852C>T (TTN-AS1) | ||
| XM_011511729.1:c.95113G>A (TTN) | XP_011510031.1:p.Val31705Met | |
| XM_011511730.1:c.69007G>A (TTN) | XP_011510032.1:p.Val23003Met | |
| XM_011511731.1:c.68866G>A (TTN) | XP_011510033.1:p.Val22956Met | |
| XM_017004819.1:c.94909G>A (TTN) | XP_016860308.1:p.Val31637Met | |
| XM_017004820.1:c.90307G>A (TTN) | XP_016860309.1:p.Val30103Met | |
| XM_017004821.1:c.90304G>A (TTN) | XP_016860310.1:p.Val30102Met | |
| XM_017004822.1:c.87346G>A (TTN) | XP_016860311.1:p.Val29116Met | |
| XM_017004823.1:c.68962G>A (TTN) | XP_016860312.1:p.Val22988Met | |
| XM_024453094.1:c.90457G>A (TTN) | XP_024308862.1:p.Val30153Met | |
| XM_024453095.1:c.90454G>A (TTN) | XP_024308863.1:p.Val30152Met | |
| XM_024453096.1:c.89887G>A (TTN) | XP_024308864.1:p.Val29963Met | |
| XM_024453097.1:c.87229G>A (TTN) | XP_024308865.1:p.Val29077Met | |
| XM_024453098.1:c.87148G>A (TTN) | XP_024308866.1:p.Val29050Met | |
| XM_024453099.1:c.68911G>A (TTN) | XP_024308867.1:p.Val22971Met | |
| XM_024453100.1:c.58765G>A (TTN) | XP_024308868.1:p.Val19589Met |