Linked Data
ClinVar Variation Id:
467281
dbSNP Id:
rs368350844
ExAC:
2:179465643 T / C
gnomAD v2:
2-179465643-T-C
gnomAD v3:
2-178600916-T-C
gnomAD v4:
2-178600916-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178600916T>C , CM000664.2:g.178600916T>C | GRCh38 |
| NC_000002.11:g.179465643T>C , CM000664.1:g.179465643T>C | GRCh37 |
| NC_000002.10:g.179173888T>C | NCBI36 |
| NG_011618.3:g.234887A>G , LRG_391:g.234887A>G | |
| NG_051363.1:g.83090T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.48284A>G (TTN) | ENSP00000343764.6:p.Asn16095Ser | |
| ENST00000342175.11:c.29369A>G (TTN) | ENSP00000340554.6:p.Asn9790Ser | |
| ENST00000359218.10:c.29168A>G (TTN) | ENSP00000352154.5:p.Asn9723Ser | |
| ENST00000342175.10:c.29369A>G (TTN) | ENSP00000340554.6:p.Asn9790Ser | |
| ENST00000342992.10:c.48284A>G (TTN) | ENSP00000343764.6:p.Asn16095Ser | |
| ENST00000359218.9:c.29168A>G (TTN) | ENSP00000352154.5:p.Asn9723Ser | |
| ENST00000460472.6:c.28793A>G (TTN) | ENSP00000434586.1:p.Asn9598Ser | |
| ENST00000589042.5:c.55988A>G (TTN) MANE Select | ENSP00000467141.1:p.Asn18663Ser | |
| ENST00000591111.5:c.51065A>G (TTN) | ENSP00000465570.1:p.Asn17022Ser | |
| ENST00000615779.4:c.51065A>G (TTN) | ENSP00000483597.1:p.Asn17022Ser | |
| NM_001256850.1:c.51065A>G (TTN) | NP_001243779.1:p.Asn17022Ser | |
| NM_001267550.2:c.55988A>G (TTN) MANE Select | NP_001254479.2:p.Asn18663Ser | |
| NM_003319.4:c.28793A>G (TTN) | NP_003310.4:p.Asn9598Ser | |
| NM_133378.4:c.48284A>G (TTN) | NP_596869.4:p.Asn16095Ser | |
| NM_133432.3:c.29168A>G (TTN) | NP_597676.3:p.Asn9723Ser | |
| NM_133437.4:c.29369A>G (TTN) | NP_597681.4:p.Asn9790Ser | |
| NR_038271.1:n.682+3235T>C (TTN-AS1) | ||
| NR_038272.1:n.3917+249T>C (TTN-AS1) | ||
| XM_011511729.1:c.55085A>G (TTN) | XP_011510031.1:p.Asn18362Ser | |
| XM_011511730.1:c.28979A>G (TTN) | XP_011510032.1:p.Asn9660Ser | |
| XM_011511731.1:c.28838A>G (TTN) | XP_011510033.1:p.Asn9613Ser | |
| XM_017004819.1:c.54881A>G (TTN) | XP_016860308.1:p.Asn18294Ser | |
| XM_017004820.1:c.50279A>G (TTN) | XP_016860309.1:p.Asn16760Ser | |
| XM_017004821.1:c.50276A>G (TTN) | XP_016860310.1:p.Asn16759Ser | |
| XM_017004822.1:c.47318A>G (TTN) | XP_016860311.1:p.Asn15773Ser | |
| XM_017004823.1:c.28934A>G (TTN) | XP_016860312.1:p.Asn9645Ser | |
| XM_024453094.1:c.50429A>G (TTN) | XP_024308862.1:p.Asn16810Ser | |
| XM_024453095.1:c.50426A>G (TTN) | XP_024308863.1:p.Asn16809Ser | |
| XM_024453096.1:c.49859A>G (TTN) | XP_024308864.1:p.Asn16620Ser | |
| XM_024453097.1:c.47201A>G (TTN) | XP_024308865.1:p.Asn15734Ser | |
| XM_024453098.1:c.47120A>G (TTN) | XP_024308866.1:p.Asn15707Ser | |
| XM_024453099.1:c.28883A>G (TTN) | XP_024308867.1:p.Asn9628Ser | |
| XM_024453100.1:c.18737A>G (TTN) | XP_024308868.1:p.Asn6246Ser |