Linked Data
ClinVar Variation Id:
96321
ClinVar RCV Id:
RCV000154885
RCV000229045
RCV000620292
RCV001130049
RCV000852784
RCV001130045
RCV001130046
RCV001130047
RCV001130048
RCV001811391
RCV003486647
dbSNP Id:
rs55660660
ExAC:
2:179406993 A / G
gnomAD v2:
2-179406993-A-G
gnomAD v3:
2-178542266-A-G
gnomAD v4:
2-178542266-A-G
PubMed:
PMID:27930701
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542266A>G , CM000664.2:g.178542266A>G | GRCh38 |
| NC_000002.11:g.179406993A>G , CM000664.1:g.179406993A>G | GRCh37 |
| NC_000002.10:g.179115239A>G | NCBI36 |
| NG_011618.3:g.293537T>C , LRG_391:g.293537T>C | |
| NG_051363.1:g.24440A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89786T>C (TTN) | ENSP00000343764.6:p.Ile29929Thr | |
| ENST00000342175.11:c.70871T>C (TTN) | ENSP00000340554.6:p.Ile23624Thr | |
| ENST00000359218.10:c.70670T>C (TTN) | ENSP00000352154.5:p.Ile23557Thr | |
| ENST00000342175.10:c.70871T>C (TTN) | ENSP00000340554.6:p.Ile23624Thr | |
| ENST00000342992.10:c.89786T>C (TTN) | ENSP00000343764.6:p.Ile29929Thr | |
| ENST00000359218.9:c.70670T>C (TTN) | ENSP00000352154.5:p.Ile23557Thr | |
| ENST00000460472.6:c.70295T>C (TTN) | ENSP00000434586.1:p.Ile23432Thr | |
| ENST00000589042.5:c.97490T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile32497Thr | |
| ENST00000591111.5:c.92567T>C (TTN) | ENSP00000465570.1:p.Ile30856Thr | |
| ENST00000615779.4:c.92567T>C (TTN) | ENSP00000483597.1:p.Ile30856Thr | |
| NM_001256850.1:c.92567T>C (TTN) | NP_001243779.1:p.Ile30856Thr | |
| NM_001267550.2:c.97490T>C (TTN) MANE Select | NP_001254479.2:p.Ile32497Thr | |
| NM_003319.4:c.70295T>C (TTN) | NP_003310.4:p.Ile23432Thr | |
| NM_133378.4:c.89786T>C (TTN) | NP_596869.4:p.Ile29929Thr | |
| NM_133432.3:c.70670T>C (TTN) | NP_597676.3:p.Ile23557Thr | |
| NM_133437.4:c.70871T>C (TTN) | NP_597681.4:p.Ile23624Thr | |
| NR_038271.1:n.446+18630A>G (TTN-AS1) | ||
| NR_038272.1:n.1948A>G (TTN-AS1) | ||
| XM_011511729.1:c.96587T>C (TTN) | XP_011510031.1:p.Ile32196Thr | |
| XM_011511730.1:c.70481T>C (TTN) | XP_011510032.1:p.Ile23494Thr | |
| XM_011511731.1:c.70340T>C (TTN) | XP_011510033.1:p.Ile23447Thr | |
| XM_017004819.1:c.96383T>C (TTN) | XP_016860308.1:p.Ile32128Thr | |
| XM_017004820.1:c.91781T>C (TTN) | XP_016860309.1:p.Ile30594Thr | |
| XM_017004821.1:c.91778T>C (TTN) | XP_016860310.1:p.Ile30593Thr | |
| XM_017004822.1:c.88820T>C (TTN) | XP_016860311.1:p.Ile29607Thr | |
| XM_017004823.1:c.70436T>C (TTN) | XP_016860312.1:p.Ile23479Thr | |
| XM_024453094.1:c.91931T>C (TTN) | XP_024308862.1:p.Ile30644Thr | |
| XM_024453095.1:c.91928T>C (TTN) | XP_024308863.1:p.Ile30643Thr | |
| XM_024453096.1:c.91361T>C (TTN) | XP_024308864.1:p.Ile30454Thr | |
| XM_024453097.1:c.88703T>C (TTN) | XP_024308865.1:p.Ile29568Thr | |
| XM_024453098.1:c.88622T>C (TTN) | XP_024308866.1:p.Ile29541Thr | |
| XM_024453099.1:c.70385T>C (TTN) | XP_024308867.1:p.Ile23462Thr | |
| XM_024453100.1:c.60239T>C (TTN) | XP_024308868.1:p.Ile20080Thr |