Linked Data
ClinVar Variation Id:
332811
dbSNP Id:
rs753245626
ExAC:
2:179451509 T / G
gnomAD v2:
2-179451509-T-G
gnomAD v4:
2-178586782-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586782T>G , CM000664.2:g.178586782T>G | GRCh38 |
| NC_000002.11:g.179451509T>G , CM000664.1:g.179451509T>G | GRCh37 |
| NC_000002.10:g.179159755T>G | NCBI36 |
| NG_011618.3:g.249021A>C , LRG_391:g.249021A>C | |
| NG_051363.1:g.68956T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56415A>C (TTN) | ENSP00000343764.6:p.Leu18805Phe | |
| ENST00000342175.11:c.37500A>C (TTN) | ENSP00000340554.6:p.Leu12500Phe | |
| ENST00000359218.10:c.37299A>C (TTN) | ENSP00000352154.5:p.Leu12433Phe | |
| ENST00000342175.10:c.37500A>C (TTN) | ENSP00000340554.6:p.Leu12500Phe | |
| ENST00000342992.10:c.56415A>C (TTN) | ENSP00000343764.6:p.Leu18805Phe | |
| ENST00000359218.9:c.37299A>C (TTN) | ENSP00000352154.5:p.Leu12433Phe | |
| ENST00000460472.6:c.36924A>C (TTN) | ENSP00000434586.1:p.Leu12308Phe | |
| ENST00000589042.5:c.64119A>C (TTN) MANE Select | ENSP00000467141.1:p.Leu21373Phe | |
| ENST00000591111.5:c.59196A>C (TTN) | ENSP00000465570.1:p.Leu19732Phe | |
| ENST00000615779.4:c.59196A>C (TTN) | ENSP00000483597.1:p.Leu19732Phe | |
| NM_001256850.1:c.59196A>C (TTN) | NP_001243779.1:p.Leu19732Phe | |
| NM_001267550.2:c.64119A>C (TTN) MANE Select | NP_001254479.2:p.Leu21373Phe | |
| NM_003319.4:c.36924A>C (TTN) | NP_003310.4:p.Leu12308Phe | |
| NM_133378.4:c.56415A>C (TTN) | NP_596869.4:p.Leu18805Phe | |
| NM_133432.3:c.37299A>C (TTN) | NP_597676.3:p.Leu12433Phe | |
| NM_133437.4:c.37500A>C (TTN) | NP_597681.4:p.Leu12500Phe | |
| NR_038271.1:n.597-10814T>G (TTN-AS1) | ||
| NR_038272.1:n.3188+1789T>G (TTN-AS1) | ||
| XM_011511729.1:c.63216A>C (TTN) | XP_011510031.1:p.Leu21072Phe | |
| XM_011511730.1:c.37110A>C (TTN) | XP_011510032.1:p.Leu12370Phe | |
| XM_011511731.1:c.36969A>C (TTN) | XP_011510033.1:p.Leu12323Phe | |
| XM_017004819.1:c.63012A>C (TTN) | XP_016860308.1:p.Leu21004Phe | |
| XM_017004820.1:c.58410A>C (TTN) | XP_016860309.1:p.Leu19470Phe | |
| XM_017004821.1:c.58407A>C (TTN) | XP_016860310.1:p.Leu19469Phe | |
| XM_017004822.1:c.55449A>C (TTN) | XP_016860311.1:p.Leu18483Phe | |
| XM_017004823.1:c.37065A>C (TTN) | XP_016860312.1:p.Leu12355Phe | |
| XM_024453094.1:c.58560A>C (TTN) | XP_024308862.1:p.Leu19520Phe | |
| XM_024453095.1:c.58557A>C (TTN) | XP_024308863.1:p.Leu19519Phe | |
| XM_024453096.1:c.57990A>C (TTN) | XP_024308864.1:p.Leu19330Phe | |
| XM_024453097.1:c.55332A>C (TTN) | XP_024308865.1:p.Leu18444Phe | |
| XM_024453098.1:c.55251A>C (TTN) | XP_024308866.1:p.Leu18417Phe | |
| XM_024453099.1:c.37014A>C (TTN) | XP_024308867.1:p.Leu12338Phe | |
| XM_024453100.1:c.26868A>C (TTN) | XP_024308868.1:p.Leu8956Phe |