Linked Data
ClinVar Variation Id:
518759
ClinVar RCV Id:
RCV000618178
RCV001130546
RCV001130542
RCV001130544
RCV001578203
RCV001130543
RCV001130545
dbSNP Id:
rs767670018
ExAC:
2:179453841 G / C
gnomAD v2:
2-179453841-G-C
gnomAD v3:
2-178589114-G-C
gnomAD v4:
2-178589114-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589114G>C , CM000664.2:g.178589114G>C | GRCh38 |
| NC_000002.11:g.179453841G>C , CM000664.1:g.179453841G>C | GRCh37 |
| NC_000002.10:g.179162087G>C | NCBI36 |
| NG_011618.3:g.246689C>G , LRG_391:g.246689C>G | |
| NG_051363.1:g.71288G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.54907C>G (TTN) | ENSP00000343764.6:p.Leu18303Val | |
| ENST00000342175.11:c.35992C>G (TTN) | ENSP00000340554.6:p.Leu11998Val | |
| ENST00000359218.10:c.35791C>G (TTN) | ENSP00000352154.5:p.Leu11931Val | |
| ENST00000342175.10:c.35992C>G (TTN) | ENSP00000340554.6:p.Leu11998Val | |
| ENST00000342992.10:c.54907C>G (TTN) | ENSP00000343764.6:p.Leu18303Val | |
| ENST00000359218.9:c.35791C>G (TTN) | ENSP00000352154.5:p.Leu11931Val | |
| ENST00000460472.6:c.35416C>G (TTN) | ENSP00000434586.1:p.Leu11806Val | |
| ENST00000589042.5:c.62611C>G (TTN) MANE Select | ENSP00000467141.1:p.Leu20871Val | |
| ENST00000591111.5:c.57688C>G (TTN) | ENSP00000465570.1:p.Leu19230Val | |
| ENST00000615779.4:c.57688C>G (TTN) | ENSP00000483597.1:p.Leu19230Val | |
| NM_001256850.1:c.57688C>G (TTN) | NP_001243779.1:p.Leu19230Val | |
| NM_001267550.2:c.62611C>G (TTN) MANE Select | NP_001254479.2:p.Leu20871Val | |
| NM_003319.4:c.35416C>G (TTN) | NP_003310.4:p.Leu11806Val | |
| NM_133378.4:c.54907C>G (TTN) | NP_596869.4:p.Leu18303Val | |
| NM_133432.3:c.35791C>G (TTN) | NP_597676.3:p.Leu11931Val | |
| NM_133437.4:c.35992C>G (TTN) | NP_597681.4:p.Leu11998Val | |
| NR_038271.1:n.597-8482G>C (TTN-AS1) | ||
| NR_038272.1:n.3189-2025G>C (TTN-AS1) | ||
| XM_011511729.1:c.61708C>G (TTN) | XP_011510031.1:p.Leu20570Val | |
| XM_011511730.1:c.35602C>G (TTN) | XP_011510032.1:p.Leu11868Val | |
| XM_011511731.1:c.35461C>G (TTN) | XP_011510033.1:p.Leu11821Val | |
| XM_017004819.1:c.61504C>G (TTN) | XP_016860308.1:p.Leu20502Val | |
| XM_017004820.1:c.56902C>G (TTN) | XP_016860309.1:p.Leu18968Val | |
| XM_017004821.1:c.56899C>G (TTN) | XP_016860310.1:p.Leu18967Val | |
| XM_017004822.1:c.53941C>G (TTN) | XP_016860311.1:p.Leu17981Val | |
| XM_017004823.1:c.35557C>G (TTN) | XP_016860312.1:p.Leu11853Val | |
| XM_024453094.1:c.57052C>G (TTN) | XP_024308862.1:p.Leu19018Val | |
| XM_024453095.1:c.57049C>G (TTN) | XP_024308863.1:p.Leu19017Val | |
| XM_024453096.1:c.56482C>G (TTN) | XP_024308864.1:p.Leu18828Val | |
| XM_024453097.1:c.53824C>G (TTN) | XP_024308865.1:p.Leu17942Val | |
| XM_024453098.1:c.53743C>G (TTN) | XP_024308866.1:p.Leu17915Val | |
| XM_024453099.1:c.35506C>G (TTN) | XP_024308867.1:p.Leu11836Val | |
| XM_024453100.1:c.25360C>G (TTN) | XP_024308868.1:p.Leu8454Val |