Linked Data
ClinVar Variation Id:
502561
dbSNP Id:
rs1379558944
gnomAD v2:
2-179413458-G-A
gnomAD v4:
2-178548731-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548731G>A , CM000664.2:g.178548731G>A | GRCh38 |
| NC_000002.11:g.179413458G>A , CM000664.1:g.179413458G>A | GRCh37 |
| NC_000002.10:g.179121704G>A | NCBI36 |
| NG_011618.3:g.287072C>T , LRG_391:g.287072C>T | |
| NG_051363.1:g.30905G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.85191C>T (TTN) | ENSP00000343764.6:p.Asn28397= | |
| ENST00000342175.11:c.66276C>T (TTN) | ENSP00000340554.6:p.Asn22092= | |
| ENST00000359218.10:c.66075C>T (TTN) | ENSP00000352154.5:p.Asn22025= | |
| ENST00000342175.10:c.66276C>T (TTN) | ENSP00000340554.6:p.Asn22092= | |
| ENST00000342992.10:c.85191C>T (TTN) | ENSP00000343764.6:p.Asn28397= | |
| ENST00000359218.9:c.66075C>T (TTN) | ENSP00000352154.5:p.Asn22025= | |
| ENST00000460472.6:c.65700C>T (TTN) | ENSP00000434586.1:p.Asn21900= | |
| ENST00000589042.5:c.92895C>T (TTN) MANE Select | ENSP00000467141.1:p.Asn30965= | |
| ENST00000591111.5:c.87972C>T (TTN) | ENSP00000465570.1:p.Asn29324= | |
| ENST00000615779.4:c.87972C>T (TTN) | ENSP00000483597.1:p.Asn29324= | |
| NM_001256850.1:c.87972C>T (TTN) | NP_001243779.1:p.Asn29324= | |
| NM_001267550.2:c.92895C>T (TTN) MANE Select | NP_001254479.2:p.Asn30965= | |
| NM_003319.4:c.65700C>T (TTN) | NP_003310.4:p.Asn21900= | |
| NM_133378.4:c.85191C>T (TTN) | NP_596869.4:p.Asn28397= | |
| NM_133432.3:c.66075C>T (TTN) | NP_597676.3:p.Asn22025= | |
| NM_133437.4:c.66276C>T (TTN) | NP_597681.4:p.Asn22092= | |
| NR_038271.1:n.447-22569G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+6370G>A (TTN-AS1) | ||
| XM_011511729.1:c.91992C>T (TTN) | XP_011510031.1:p.Asn30664= | |
| XM_011511730.1:c.65886C>T (TTN) | XP_011510032.1:p.Asn21962= | |
| XM_011511731.1:c.65745C>T (TTN) | XP_011510033.1:p.Asn21915= | |
| XM_017004819.1:c.91788C>T (TTN) | XP_016860308.1:p.Asn30596= | |
| XM_017004820.1:c.87186C>T (TTN) | XP_016860309.1:p.Asn29062= | |
| XM_017004821.1:c.87183C>T (TTN) | XP_016860310.1:p.Asn29061= | |
| XM_017004822.1:c.84225C>T (TTN) | XP_016860311.1:p.Asn28075= | |
| XM_017004823.1:c.65841C>T (TTN) | XP_016860312.1:p.Asn21947= | |
| XM_024453094.1:c.87336C>T (TTN) | XP_024308862.1:p.Asn29112= | |
| XM_024453095.1:c.87333C>T (TTN) | XP_024308863.1:p.Asn29111= | |
| XM_024453096.1:c.86766C>T (TTN) | XP_024308864.1:p.Asn28922= | |
| XM_024453097.1:c.84108C>T (TTN) | XP_024308865.1:p.Asn28036= | |
| XM_024453098.1:c.84027C>T (TTN) | XP_024308866.1:p.Asn28009= | |
| XM_024453099.1:c.65790C>T (TTN) | XP_024308867.1:p.Asn21930= | |
| XM_024453100.1:c.55644C>T (TTN) | XP_024308868.1:p.Asn18548= |