Linked Data
ClinVar Variation Id:
178179
dbSNP Id:
rs374022393
ExAC:
2:179424856 A / G
gnomAD v2:
2-179424856-A-G
gnomAD v3:
2-178560129-A-G
gnomAD v4:
2-178560129-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560129A>G , CM000664.2:g.178560129A>G | GRCh38 |
| NC_000002.11:g.179424856A>G , CM000664.1:g.179424856A>G | GRCh37 |
| NC_000002.10:g.179133102A>G | NCBI36 |
| NG_011618.3:g.275674T>C , LRG_391:g.275674T>C | |
| NG_051363.1:g.42303A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.78299T>C (TTN) | ENSP00000343764.6:p.Ile26100Thr | |
| ENST00000342175.11:c.59384T>C (TTN) | ENSP00000340554.6:p.Ile19795Thr | |
| ENST00000359218.10:c.59183T>C (TTN) | ENSP00000352154.5:p.Ile19728Thr | |
| ENST00000342175.10:c.59384T>C (TTN) | ENSP00000340554.6:p.Ile19795Thr | |
| ENST00000342992.10:c.78299T>C (TTN) | ENSP00000343764.6:p.Ile26100Thr | |
| ENST00000359218.9:c.59183T>C (TTN) | ENSP00000352154.5:p.Ile19728Thr | |
| ENST00000460472.6:c.58808T>C (TTN) | ENSP00000434586.1:p.Ile19603Thr | |
| ENST00000589042.5:c.86003T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile28668Thr | |
| ENST00000591111.5:c.81080T>C (TTN) | ENSP00000465570.1:p.Ile27027Thr | |
| ENST00000615779.4:c.81080T>C (TTN) | ENSP00000483597.1:p.Ile27027Thr | |
| NM_001256850.1:c.81080T>C (TTN) | NP_001243779.1:p.Ile27027Thr | |
| NM_001267550.2:c.86003T>C (TTN) MANE Select | NP_001254479.2:p.Ile28668Thr | |
| NM_003319.4:c.58808T>C (TTN) | NP_003310.4:p.Ile19603Thr | |
| NM_133378.4:c.78299T>C (TTN) | NP_596869.4:p.Ile26100Thr | |
| NM_133432.3:c.59183T>C (TTN) | NP_597676.3:p.Ile19728Thr | |
| NM_133437.4:c.59384T>C (TTN) | NP_597681.4:p.Ile19795Thr | |
| NR_038271.1:n.447-11171A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+17768A>G (TTN-AS1) | ||
| XM_011511729.1:c.85100T>C (TTN) | XP_011510031.1:p.Ile28367Thr | |
| XM_011511730.1:c.58994T>C (TTN) | XP_011510032.1:p.Ile19665Thr | |
| XM_011511731.1:c.58853T>C (TTN) | XP_011510033.1:p.Ile19618Thr | |
| XM_017004819.1:c.84896T>C (TTN) | XP_016860308.1:p.Ile28299Thr | |
| XM_017004820.1:c.80294T>C (TTN) | XP_016860309.1:p.Ile26765Thr | |
| XM_017004821.1:c.80291T>C (TTN) | XP_016860310.1:p.Ile26764Thr | |
| XM_017004822.1:c.77333T>C (TTN) | XP_016860311.1:p.Ile25778Thr | |
| XM_017004823.1:c.58949T>C (TTN) | XP_016860312.1:p.Ile19650Thr | |
| XM_024453094.1:c.80444T>C (TTN) | XP_024308862.1:p.Ile26815Thr | |
| XM_024453095.1:c.80441T>C (TTN) | XP_024308863.1:p.Ile26814Thr | |
| XM_024453096.1:c.79874T>C (TTN) | XP_024308864.1:p.Ile26625Thr | |
| XM_024453097.1:c.77216T>C (TTN) | XP_024308865.1:p.Ile25739Thr | |
| XM_024453098.1:c.77135T>C (TTN) | XP_024308866.1:p.Ile25712Thr | |
| XM_024453099.1:c.58898T>C (TTN) | XP_024308867.1:p.Ile19633Thr | |
| XM_024453100.1:c.48752T>C (TTN) | XP_024308868.1:p.Ile16251Thr |