Linked Data
ClinVar Variation Id:
332695
ClinVar RCV Id:
RCV000283446
RCV000334897
RCV000340772
RCV000404694
RCV000406553
RCV001700063
RCV001726129
RCV002402056
RCV002521343
dbSNP Id:
rs375120372
ExAC:
2:179397350 G / C
gnomAD v2:
2-179397350-G-C
gnomAD v3:
2-178532623-G-C
gnomAD v4:
2-178532623-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532623G>C , CM000664.2:g.178532623G>C | GRCh38 |
| NC_000002.11:g.179397350G>C , CM000664.1:g.179397350G>C | GRCh37 |
| NC_000002.10:g.179105596G>C | NCBI36 |
| NG_011618.3:g.303180C>G , LRG_391:g.303180C>G | |
| NG_051363.1:g.14797G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96288C>G (TTN) | ENSP00000343764.6:p.Leu32096= | |
| ENST00000342175.11:c.77373C>G (TTN) | ENSP00000340554.6:p.Leu25791= | |
| ENST00000359218.10:c.77172C>G (TTN) | ENSP00000352154.5:p.Leu25724= | |
| ENST00000342175.10:c.77373C>G (TTN) | ENSP00000340554.6:p.Leu25791= | |
| ENST00000342992.10:c.96288C>G (TTN) | ENSP00000343764.6:p.Leu32096= | |
| ENST00000359218.9:c.77172C>G (TTN) | ENSP00000352154.5:p.Leu25724= | |
| ENST00000460472.6:c.76797C>G (TTN) | ENSP00000434586.1:p.Leu25599= | |
| ENST00000589042.5:c.103992C>G (TTN) MANE Select | ENSP00000467141.1:p.Leu34664= | |
| ENST00000591111.5:c.99069C>G (TTN) | ENSP00000465570.1:p.Leu33023= | |
| ENST00000615779.4:c.99069C>G (TTN) | ENSP00000483597.1:p.Leu33023= | |
| NM_001256850.1:c.99069C>G (TTN) | NP_001243779.1:p.Leu33023= | |
| NM_001267550.2:c.103992C>G (TTN) MANE Select | NP_001254479.2:p.Leu34664= | |
| NM_003319.4:c.76797C>G (TTN) | NP_003310.4:p.Leu25599= | |
| NM_133378.4:c.96288C>G (TTN) | NP_596869.4:p.Leu32096= | |
| NM_133432.3:c.77172C>G (TTN) | NP_597676.3:p.Leu25724= | |
| NM_133437.4:c.77373C>G (TTN) | NP_597681.4:p.Leu25791= | |
| NR_038271.1:n.446+8987G>C (TTN-AS1) | ||
| NR_038272.1:n.220-3109G>C (TTN-AS1) | ||
| XM_011511729.1:c.103089C>G (TTN) | XP_011510031.1:p.Leu34363= | |
| XM_011511730.1:c.76983C>G (TTN) | XP_011510032.1:p.Leu25661= | |
| XM_011511731.1:c.76842C>G (TTN) | XP_011510033.1:p.Leu25614= | |
| XM_017004819.1:c.102885C>G (TTN) | XP_016860308.1:p.Leu34295= | |
| XM_017004820.1:c.98283C>G (TTN) | XP_016860309.1:p.Leu32761= | |
| XM_017004821.1:c.98280C>G (TTN) | XP_016860310.1:p.Leu32760= | |
| XM_017004822.1:c.95322C>G (TTN) | XP_016860311.1:p.Leu31774= | |
| XM_017004823.1:c.76938C>G (TTN) | XP_016860312.1:p.Leu25646= | |
| XM_024453094.1:c.98433C>G (TTN) | XP_024308862.1:p.Leu32811= | |
| XM_024453095.1:c.98430C>G (TTN) | XP_024308863.1:p.Leu32810= | |
| XM_024453096.1:c.97863C>G (TTN) | XP_024308864.1:p.Leu32621= | |
| XM_024453097.1:c.95205C>G (TTN) | XP_024308865.1:p.Leu31735= | |
| XM_024453098.1:c.95124C>G (TTN) | XP_024308866.1:p.Leu31708= | |
| XM_024453099.1:c.76887C>G (TTN) | XP_024308867.1:p.Leu25629= | |
| XM_024453100.1:c.66741C>G (TTN) | XP_024308868.1:p.Leu22247= |