Linked Data
ClinVar Variation Id:
132138
ClinVar RCV Id:
RCV000119026
dbSNP Id:
rs869320743
PubMed:
PMID:24575448
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178545878G>C , CM000664.2:g.178545878G>C | GRCh38 |
| NC_000002.11:g.179410605G>C , CM000664.1:g.179410605G>C | GRCh37 |
| NC_000002.10:g.179118851G>C | NCBI36 |
| NG_011618.3:g.289925C>G , LRG_391:g.289925C>G | |
| NG_051363.1:g.28052G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.87654C>G (TTN) | ENSP00000343764.6:p.Asn29218Lys | |
| ENST00000342175.11:c.68739C>G (TTN) | ENSP00000340554.6:p.Asn22913Lys | |
| ENST00000359218.10:c.68538C>G (TTN) | ENSP00000352154.5:p.Asn22846Lys | |
| ENST00000342175.10:c.68739C>G (TTN) | ENSP00000340554.6:p.Asn22913Lys | |
| ENST00000342992.10:c.87654C>G (TTN) | ENSP00000343764.6:p.Asn29218Lys | |
| ENST00000359218.9:c.68538C>G (TTN) | ENSP00000352154.5:p.Asn22846Lys | |
| ENST00000460472.6:c.68163C>G (TTN) | ENSP00000434586.1:p.Asn22721Lys | |
| ENST00000589042.5:c.95358C>G (TTN) MANE Select | ENSP00000467141.1:p.Asn31786Lys | |
| ENST00000591111.5:c.90435C>G (TTN) | ENSP00000465570.1:p.Asn30145Lys | |
| ENST00000615779.4:c.90435C>G (TTN) | ENSP00000483597.1:p.Asn30145Lys | |
| NM_001256850.1:c.90435C>G (TTN) | NP_001243779.1:p.Asn30145Lys | |
| NM_001267550.2:c.95358C>G (TTN) MANE Select | NP_001254479.2:p.Asn31786Lys | |
| NM_003319.4:c.68163C>G (TTN) | NP_003310.4:p.Asn22721Lys | |
| NM_133378.4:c.87654C>G (TTN) | NP_596869.4:p.Asn29218Lys | |
| NM_133432.3:c.68538C>G (TTN) | NP_597676.3:p.Asn22846Lys | |
| NM_133437.4:c.68739C>G (TTN) | NP_597681.4:p.Asn22913Lys | |
| NR_038271.1:n.446+22242G>C (TTN-AS1) | ||
| NR_038272.1:n.2043+3517G>C (TTN-AS1) | ||
| XM_011511729.1:c.94455C>G (TTN) | XP_011510031.1:p.Asn31485Lys | |
| XM_011511730.1:c.68349C>G (TTN) | XP_011510032.1:p.Asn22783Lys | |
| XM_011511731.1:c.68208C>G (TTN) | XP_011510033.1:p.Asn22736Lys | |
| XM_017004819.1:c.94251C>G (TTN) | XP_016860308.1:p.Asn31417Lys | |
| XM_017004820.1:c.89649C>G (TTN) | XP_016860309.1:p.Asn29883Lys | |
| XM_017004821.1:c.89646C>G (TTN) | XP_016860310.1:p.Asn29882Lys | |
| XM_017004822.1:c.86688C>G (TTN) | XP_016860311.1:p.Asn28896Lys | |
| XM_017004823.1:c.68304C>G (TTN) | XP_016860312.1:p.Asn22768Lys | |
| XM_024453094.1:c.89799C>G (TTN) | XP_024308862.1:p.Asn29933Lys | |
| XM_024453095.1:c.89796C>G (TTN) | XP_024308863.1:p.Asn29932Lys | |
| XM_024453096.1:c.89229C>G (TTN) | XP_024308864.1:p.Asn29743Lys | |
| XM_024453097.1:c.86571C>G (TTN) | XP_024308865.1:p.Asn28857Lys | |
| XM_024453098.1:c.86490C>G (TTN) | XP_024308866.1:p.Asn28830Lys | |
| XM_024453099.1:c.68253C>G (TTN) | XP_024308867.1:p.Asn22751Lys | |
| XM_024453100.1:c.58107C>G (TTN) | XP_024308868.1:p.Asn19369Lys |