Linked Data
ClinVar Variation Id:
202742
ClinVar RCV Id:
RCV000184664
RCV000460043
RCV000619810
RCV001132250
RCV001132251
RCV001132248
RCV001132247
RCV001132249
RCV001532422
dbSNP Id:
rs563969986
ExAC:
2:179457564 T / C
gnomAD v2:
2-179457564-T-C
gnomAD v3:
2-178592837-T-C
gnomAD v4:
2-178592837-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592837T>C , CM000664.2:g.178592837T>C | GRCh38 |
| NC_000002.11:g.179457564T>C , CM000664.1:g.179457564T>C | GRCh37 |
| NC_000002.10:g.179165810T>C | NCBI36 |
| NG_011618.3:g.242966A>G , LRG_391:g.242966A>G | |
| NG_051363.1:g.75011T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51578A>G (TTN) | ENSP00000343764.6:p.Asn17193Ser | |
| ENST00000342175.11:c.32663A>G (TTN) | ENSP00000340554.6:p.Asn10888Ser | |
| ENST00000359218.10:c.32462A>G (TTN) | ENSP00000352154.5:p.Asn10821Ser | |
| ENST00000342175.10:c.32663A>G (TTN) | ENSP00000340554.6:p.Asn10888Ser | |
| ENST00000342992.10:c.51578A>G (TTN) | ENSP00000343764.6:p.Asn17193Ser | |
| ENST00000359218.9:c.32462A>G (TTN) | ENSP00000352154.5:p.Asn10821Ser | |
| ENST00000460472.6:c.32087A>G (TTN) | ENSP00000434586.1:p.Asn10696Ser | |
| ENST00000589042.5:c.59282A>G (TTN) MANE Select | ENSP00000467141.1:p.Asn19761Ser | |
| ENST00000591111.5:c.54359A>G (TTN) | ENSP00000465570.1:p.Asn18120Ser | |
| ENST00000615779.4:c.54359A>G (TTN) | ENSP00000483597.1:p.Asn18120Ser | |
| NM_001256850.1:c.54359A>G (TTN) | NP_001243779.1:p.Asn18120Ser | |
| NM_001267550.2:c.59282A>G (TTN) MANE Select | NP_001254479.2:p.Asn19761Ser | |
| NM_003319.4:c.32087A>G (TTN) | NP_003310.4:p.Asn10696Ser | |
| NM_133378.4:c.51578A>G (TTN) | NP_596869.4:p.Asn17193Ser | |
| NM_133432.3:c.32462A>G (TTN) | NP_597676.3:p.Asn10821Ser | |
| NM_133437.4:c.32663A>G (TTN) | NP_597681.4:p.Asn10888Ser | |
| NR_038271.1:n.597-4759T>C (TTN-AS1) | ||
| NR_038272.1:n.3364+1523T>C (TTN-AS1) | ||
| XM_011511729.1:c.58379A>G (TTN) | XP_011510031.1:p.Asn19460Ser | |
| XM_011511730.1:c.32273A>G (TTN) | XP_011510032.1:p.Asn10758Ser | |
| XM_011511731.1:c.32132A>G (TTN) | XP_011510033.1:p.Asn10711Ser | |
| XM_017004819.1:c.58175A>G (TTN) | XP_016860308.1:p.Asn19392Ser | |
| XM_017004820.1:c.53573A>G (TTN) | XP_016860309.1:p.Asn17858Ser | |
| XM_017004821.1:c.53570A>G (TTN) | XP_016860310.1:p.Asn17857Ser | |
| XM_017004822.1:c.50612A>G (TTN) | XP_016860311.1:p.Asn16871Ser | |
| XM_017004823.1:c.32228A>G (TTN) | XP_016860312.1:p.Asn10743Ser | |
| XM_024453094.1:c.53723A>G (TTN) | XP_024308862.1:p.Asn17908Ser | |
| XM_024453095.1:c.53720A>G (TTN) | XP_024308863.1:p.Asn17907Ser | |
| XM_024453096.1:c.53153A>G (TTN) | XP_024308864.1:p.Asn17718Ser | |
| XM_024453097.1:c.50495A>G (TTN) | XP_024308865.1:p.Asn16832Ser | |
| XM_024453098.1:c.50414A>G (TTN) | XP_024308866.1:p.Asn16805Ser | |
| XM_024453099.1:c.32177A>G (TTN) | XP_024308867.1:p.Asn10726Ser | |
| XM_024453100.1:c.22031A>G (TTN) | XP_024308868.1:p.Asn7344Ser |