Linked Data
ClinVar Variation Id:
499226
dbSNP Id:
rs773855604
ExAC:
2:179449634 G / A
gnomAD v2:
2-179449634-G-A
gnomAD v3:
2-178584907-G-A
gnomAD v4:
2-178584907-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584907G>A , CM000664.2:g.178584907G>A | GRCh38 |
| NC_000002.11:g.179449634G>A , CM000664.1:g.179449634G>A | GRCh37 |
| NC_000002.10:g.179157880G>A | NCBI36 |
| NG_011618.3:g.250896C>T , LRG_391:g.250896C>T | |
| NG_051363.1:g.67081G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57030C>T (TTN) | ENSP00000343764.6:p.Ser19010= | |
| ENST00000342175.11:c.38115C>T (TTN) | ENSP00000340554.6:p.Ser12705= | |
| ENST00000359218.10:c.37914C>T (TTN) | ENSP00000352154.5:p.Ser12638= | |
| ENST00000342175.10:c.38115C>T (TTN) | ENSP00000340554.6:p.Ser12705= | |
| ENST00000342992.10:c.57030C>T (TTN) | ENSP00000343764.6:p.Ser19010= | |
| ENST00000359218.9:c.37914C>T (TTN) | ENSP00000352154.5:p.Ser12638= | |
| ENST00000460472.6:c.37539C>T (TTN) | ENSP00000434586.1:p.Ser12513= | |
| ENST00000589042.5:c.64734C>T (TTN) MANE Select | ENSP00000467141.1:p.Ser21578= | |
| ENST00000591111.5:c.59811C>T (TTN) | ENSP00000465570.1:p.Ser19937= | |
| ENST00000615779.4:c.59811C>T (TTN) | ENSP00000483597.1:p.Ser19937= | |
| NM_001256850.1:c.59811C>T (TTN) | NP_001243779.1:p.Ser19937= | |
| NM_001267550.2:c.64734C>T (TTN) MANE Select | NP_001254479.2:p.Ser21578= | |
| NM_003319.4:c.37539C>T (TTN) | NP_003310.4:p.Ser12513= | |
| NM_133378.4:c.57030C>T (TTN) | NP_596869.4:p.Ser19010= | |
| NM_133432.3:c.37914C>T (TTN) | NP_597676.3:p.Ser12638= | |
| NM_133437.4:c.38115C>T (TTN) | NP_597681.4:p.Ser12705= | |
| NR_038271.1:n.597-12689G>A (TTN-AS1) | ||
| NR_038272.1:n.3102G>A (TTN-AS1) | ||
| XM_011511729.1:c.63831C>T (TTN) | XP_011510031.1:p.Ser21277= | |
| XM_011511730.1:c.37725C>T (TTN) | XP_011510032.1:p.Ser12575= | |
| XM_011511731.1:c.37584C>T (TTN) | XP_011510033.1:p.Ser12528= | |
| XM_017004819.1:c.63627C>T (TTN) | XP_016860308.1:p.Ser21209= | |
| XM_017004820.1:c.59025C>T (TTN) | XP_016860309.1:p.Ser19675= | |
| XM_017004821.1:c.59022C>T (TTN) | XP_016860310.1:p.Ser19674= | |
| XM_017004822.1:c.56064C>T (TTN) | XP_016860311.1:p.Ser18688= | |
| XM_017004823.1:c.37680C>T (TTN) | XP_016860312.1:p.Ser12560= | |
| XM_024453094.1:c.59175C>T (TTN) | XP_024308862.1:p.Ser19725= | |
| XM_024453095.1:c.59172C>T (TTN) | XP_024308863.1:p.Ser19724= | |
| XM_024453096.1:c.58605C>T (TTN) | XP_024308864.1:p.Ser19535= | |
| XM_024453097.1:c.55947C>T (TTN) | XP_024308865.1:p.Ser18649= | |
| XM_024453098.1:c.55866C>T (TTN) | XP_024308866.1:p.Ser18622= | |
| XM_024453099.1:c.37629C>T (TTN) | XP_024308867.1:p.Ser12543= | |
| XM_024453100.1:c.27483C>T (TTN) | XP_024308868.1:p.Ser9161= |