Linked Data
ClinVar Variation Id:
179558
dbSNP Id:
rs727504949
ExAC:
2:179393344 T / G
gnomAD v2:
2-179393344-T-G
gnomAD v3:
2-178528617-T-G
gnomAD v4:
2-178528617-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178528617T>G , CM000664.2:g.178528617T>G | GRCh38 |
| NC_000002.11:g.179393344T>G , CM000664.1:g.179393344T>G | GRCh37 |
| NC_000002.10:g.179101590T>G | NCBI36 |
| NG_011618.3:g.307186A>C , LRG_391:g.307186A>C | |
| NG_051363.1:g.10791T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.99430A>C (TTN) | ENSP00000343764.6:p.Asn33144His | |
| ENST00000342175.11:c.80515A>C (TTN) | ENSP00000340554.6:p.Asn26839His | |
| ENST00000359218.10:c.80314A>C (TTN) | ENSP00000352154.5:p.Asn26772His | |
| ENST00000342175.10:c.80515A>C (TTN) | ENSP00000340554.6:p.Asn26839His | |
| ENST00000342992.10:c.99430A>C (TTN) | ENSP00000343764.6:p.Asn33144His | |
| ENST00000359218.9:c.80314A>C (TTN) | ENSP00000352154.5:p.Asn26772His | |
| ENST00000460472.6:c.79939A>C (TTN) | ENSP00000434586.1:p.Asn26647His | |
| ENST00000589042.5:c.107134A>C (TTN) MANE Select | ENSP00000467141.1:p.Asn35712His | |
| ENST00000591111.5:c.102211A>C (TTN) | ENSP00000465570.1:p.Asn34071His | |
| ENST00000615779.4:c.102211A>C (TTN) | ENSP00000483597.1:p.Asn34071His | |
| NM_001256850.1:c.102211A>C (TTN) | NP_001243779.1:p.Asn34071His | |
| NM_001267550.2:c.107134A>C (TTN) MANE Select | NP_001254479.2:p.Asn35712His | |
| NM_003319.4:c.79939A>C (TTN) | NP_003310.4:p.Asn26647His | |
| NM_133378.4:c.99430A>C (TTN) | NP_596869.4:p.Asn33144His | |
| NM_133432.3:c.80314A>C (TTN) | NP_597676.3:p.Asn26772His | |
| NM_133437.4:c.80515A>C (TTN) | NP_597681.4:p.Asn26839His | |
| NR_038271.1:n.446+4981T>G (TTN-AS1) | ||
| NR_038272.1:n.219+4981T>G (TTN-AS1) | ||
| XM_011511729.1:c.106231A>C (TTN) | XP_011510031.1:p.Asn35411His | |
| XM_011511730.1:c.80125A>C (TTN) | XP_011510032.1:p.Asn26709His | |
| XM_011511731.1:c.79984A>C (TTN) | XP_011510033.1:p.Asn26662His | |
| XM_017004819.1:c.106027A>C (TTN) | XP_016860308.1:p.Asn35343His | |
| XM_017004820.1:c.101425A>C (TTN) | XP_016860309.1:p.Asn33809His | |
| XM_017004821.1:c.101422A>C (TTN) | XP_016860310.1:p.Asn33808His | |
| XM_017004822.1:c.98464A>C (TTN) | XP_016860311.1:p.Asn32822His | |
| XM_017004823.1:c.80080A>C (TTN) | XP_016860312.1:p.Asn26694His | |
| XM_024453094.1:c.101575A>C (TTN) | XP_024308862.1:p.Asn33859His | |
| XM_024453095.1:c.101572A>C (TTN) | XP_024308863.1:p.Asn33858His | |
| XM_024453096.1:c.101005A>C (TTN) | XP_024308864.1:p.Asn33669His | |
| XM_024453097.1:c.98347A>C (TTN) | XP_024308865.1:p.Asn32783His | |
| XM_024453098.1:c.98266A>C (TTN) | XP_024308866.1:p.Asn32756His | |
| XM_024453099.1:c.80029A>C (TTN) | XP_024308867.1:p.Asn26677His | |
| XM_024453100.1:c.69883A>C (TTN) | XP_024308868.1:p.Asn23295His |