Linked Data
ClinVar Variation Id:
130689
dbSNP Id:
rs528502993
ExAC:
2:179398379 G / A
gnomAD v2:
2-179398379-G-A
gnomAD v3:
2-178533652-G-A
gnomAD v4:
2-178533652-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533652G>A , CM000664.2:g.178533652G>A | GRCh38 |
| NC_000002.11:g.179398379G>A , CM000664.1:g.179398379G>A | GRCh37 |
| NC_000002.10:g.179106625G>A | NCBI36 |
| NG_011618.3:g.302151C>T , LRG_391:g.302151C>T | |
| NG_051363.1:g.15826G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95259C>T (TTN) | ENSP00000343764.6:p.Asn31753= | |
| ENST00000342175.11:c.76344C>T (TTN) | ENSP00000340554.6:p.Asn25448= | |
| ENST00000359218.10:c.76143C>T (TTN) | ENSP00000352154.5:p.Asn25381= | |
| ENST00000342175.10:c.76344C>T (TTN) | ENSP00000340554.6:p.Asn25448= | |
| ENST00000342992.10:c.95259C>T (TTN) | ENSP00000343764.6:p.Asn31753= | |
| ENST00000359218.9:c.76143C>T (TTN) | ENSP00000352154.5:p.Asn25381= | |
| ENST00000460472.6:c.75768C>T (TTN) | ENSP00000434586.1:p.Asn25256= | |
| ENST00000589042.5:c.102963C>T (TTN) MANE Select | ENSP00000467141.1:p.Asn34321= | |
| ENST00000591111.5:c.98040C>T (TTN) | ENSP00000465570.1:p.Asn32680= | |
| ENST00000615779.4:c.98040C>T (TTN) | ENSP00000483597.1:p.Asn32680= | |
| NM_001256850.1:c.98040C>T (TTN) | NP_001243779.1:p.Asn32680= | |
| NM_001267550.2:c.102963C>T (TTN) MANE Select | NP_001254479.2:p.Asn34321= | |
| NM_003319.4:c.75768C>T (TTN) | NP_003310.4:p.Asn25256= | |
| NM_133378.4:c.95259C>T (TTN) | NP_596869.4:p.Asn31753= | |
| NM_133432.3:c.76143C>T (TTN) | NP_597676.3:p.Asn25381= | |
| NM_133437.4:c.76344C>T (TTN) | NP_597681.4:p.Asn25448= | |
| NR_038271.1:n.446+10016G>A (TTN-AS1) | ||
| NR_038272.1:n.220-2080G>A (TTN-AS1) | ||
| XM_011511729.1:c.102060C>T (TTN) | XP_011510031.1:p.Asn34020= | |
| XM_011511730.1:c.75954C>T (TTN) | XP_011510032.1:p.Asn25318= | |
| XM_011511731.1:c.75813C>T (TTN) | XP_011510033.1:p.Asn25271= | |
| XM_017004819.1:c.101856C>T (TTN) | XP_016860308.1:p.Asn33952= | |
| XM_017004820.1:c.97254C>T (TTN) | XP_016860309.1:p.Asn32418= | |
| XM_017004821.1:c.97251C>T (TTN) | XP_016860310.1:p.Asn32417= | |
| XM_017004822.1:c.94293C>T (TTN) | XP_016860311.1:p.Asn31431= | |
| XM_017004823.1:c.75909C>T (TTN) | XP_016860312.1:p.Asn25303= | |
| XM_024453094.1:c.97404C>T (TTN) | XP_024308862.1:p.Asn32468= | |
| XM_024453095.1:c.97401C>T (TTN) | XP_024308863.1:p.Asn32467= | |
| XM_024453096.1:c.96834C>T (TTN) | XP_024308864.1:p.Asn32278= | |
| XM_024453097.1:c.94176C>T (TTN) | XP_024308865.1:p.Asn31392= | |
| XM_024453098.1:c.94095C>T (TTN) | XP_024308866.1:p.Asn31365= | |
| XM_024453099.1:c.75858C>T (TTN) | XP_024308867.1:p.Asn25286= | |
| XM_024453100.1:c.65712C>T (TTN) | XP_024308868.1:p.Asn21904= |