Linked Data
ClinVar Variation Id:
229439
dbSNP Id:
rs371299188
ExAC:
2:179484555 C / A
gnomAD v2:
2-179484555-C-A
gnomAD v3:
2-178619828-C-A
gnomAD v4:
2-178619828-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178619828C>A , CM000664.2:g.178619828C>A | GRCh38 |
| NC_000002.11:g.179484555C>A , CM000664.1:g.179484555C>A | GRCh37 |
| NC_000002.10:g.179192800C>A | NCBI36 |
| NG_011618.3:g.215975G>T , LRG_391:g.215975G>T | |
| NG_051363.1:g.102002C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.38785G>T (TTN) | ENSP00000343764.6:p.Val12929Phe | |
| ENST00000342175.11:c.19870G>T (TTN) | ENSP00000340554.6:p.Val6624Phe | |
| ENST00000359218.10:c.19669G>T (TTN) | ENSP00000352154.5:p.Val6557Phe | |
| ENST00000342175.10:c.19870G>T (TTN) | ENSP00000340554.6:p.Val6624Phe | |
| ENST00000342992.10:c.38785G>T (TTN) | ENSP00000343764.6:p.Val12929Phe | |
| ENST00000359218.9:c.19669G>T (TTN) | ENSP00000352154.5:p.Val6557Phe | |
| ENST00000460472.6:c.19294G>T (TTN) | ENSP00000434586.1:p.Val6432Phe | |
| ENST00000589042.5:c.46489G>T (TTN) MANE Select | ENSP00000467141.1:p.Val15497Phe | |
| ENST00000591111.5:c.41566G>T (TTN) | ENSP00000465570.1:p.Val13856Phe | |
| ENST00000615779.4:c.41566G>T (TTN) | ENSP00000483597.1:p.Val13856Phe | |
| NM_001256850.1:c.41566G>T (TTN) | NP_001243779.1:p.Val13856Phe | |
| NM_001267550.2:c.46489G>T (TTN) MANE Select | NP_001254479.2:p.Val15497Phe | |
| NM_003319.4:c.19294G>T (TTN) | NP_003310.4:p.Val6432Phe | |
| NM_133378.4:c.38785G>T (TTN) | NP_596869.4:p.Val12929Phe | |
| NM_133432.3:c.19669G>T (TTN) | NP_597676.3:p.Val6557Phe | |
| NM_133437.4:c.19870G>T (TTN) | NP_597681.4:p.Val6624Phe | |
| NR_038271.1:n.1680C>A (TTN-AS1) | ||
| XM_011511729.1:c.45586G>T (TTN) | XP_011510031.1:p.Val15196Phe | |
| XM_011511730.1:c.19480G>T (TTN) | XP_011510032.1:p.Val6494Phe | |
| XM_011511731.1:c.19339G>T (TTN) | XP_011510033.1:p.Val6447Phe | |
| XM_017004819.1:c.45382G>T (TTN) | XP_016860308.1:p.Val15128Phe | |
| XM_017004820.1:c.40780G>T (TTN) | XP_016860309.1:p.Val13594Phe | |
| XM_017004821.1:c.40777G>T (TTN) | XP_016860310.1:p.Val13593Phe | |
| XM_017004822.1:c.37819G>T (TTN) | XP_016860311.1:p.Val12607Phe | |
| XM_017004823.1:c.19435G>T (TTN) | XP_016860312.1:p.Val6479Phe | |
| XM_024453094.1:c.40930G>T (TTN) | XP_024308862.1:p.Val13644Phe | |
| XM_024453095.1:c.40927G>T (TTN) | XP_024308863.1:p.Val13643Phe | |
| XM_024453096.1:c.40360G>T (TTN) | XP_024308864.1:p.Val13454Phe | |
| XM_024453097.1:c.37702G>T (TTN) | XP_024308865.1:p.Val12568Phe | |
| XM_024453098.1:c.37621G>T (TTN) | XP_024308866.1:p.Val12541Phe | |
| XM_024453099.1:c.19384G>T (TTN) | XP_024308867.1:p.Val6462Phe | |
| XM_024453100.1:c.9238G>T (TTN) | XP_024308868.1:p.Val3080Phe |