Linked Data
ClinVar Variation Id:
47690
ClinVar RCV Id:
RCV000040959
RCV000172151
RCV001132330
RCV001132332
RCV001132331
RCV001132333
RCV001133260
RCV002483020
RCV002408537
dbSNP Id:
rs200782068
ExAC:
2:179395926 G / A
gnomAD v2:
2-179395926-G-A
gnomAD v3:
2-178531199-G-A
gnomAD v4:
2-178531199-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531199G>A , CM000664.2:g.178531199G>A | GRCh38 |
| NC_000002.11:g.179395926G>A , CM000664.1:g.179395926G>A | GRCh37 |
| NC_000002.10:g.179104172G>A | NCBI36 |
| NG_011618.3:g.304604C>T , LRG_391:g.304604C>T | |
| NG_051363.1:g.13373G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97712C>T (TTN) | ENSP00000343764.6:p.Thr32571Ile | |
| ENST00000342175.11:c.78797C>T (TTN) | ENSP00000340554.6:p.Thr26266Ile | |
| ENST00000359218.10:c.78596C>T (TTN) | ENSP00000352154.5:p.Thr26199Ile | |
| ENST00000342175.10:c.78797C>T (TTN) | ENSP00000340554.6:p.Thr26266Ile | |
| ENST00000342992.10:c.97712C>T (TTN) | ENSP00000343764.6:p.Thr32571Ile | |
| ENST00000359218.9:c.78596C>T (TTN) | ENSP00000352154.5:p.Thr26199Ile | |
| ENST00000460472.6:c.78221C>T (TTN) | ENSP00000434586.1:p.Thr26074Ile | |
| ENST00000589042.5:c.105416C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr35139Ile | |
| ENST00000591111.5:c.100493C>T (TTN) | ENSP00000465570.1:p.Thr33498Ile | |
| ENST00000615779.4:c.100493C>T (TTN) | ENSP00000483597.1:p.Thr33498Ile | |
| NM_001256850.1:c.100493C>T (TTN) | NP_001243779.1:p.Thr33498Ile | |
| NM_001267550.2:c.105416C>T (TTN) MANE Select | NP_001254479.2:p.Thr35139Ile | |
| NM_003319.4:c.78221C>T (TTN) | NP_003310.4:p.Thr26074Ile | |
| NM_133378.4:c.97712C>T (TTN) | NP_596869.4:p.Thr32571Ile | |
| NM_133432.3:c.78596C>T (TTN) | NP_597676.3:p.Thr26199Ile | |
| NM_133437.4:c.78797C>T (TTN) | NP_597681.4:p.Thr26266Ile | |
| NR_038271.1:n.446+7563G>A (TTN-AS1) | ||
| NR_038272.1:n.220-4533G>A (TTN-AS1) | ||
| XM_011511729.1:c.104513C>T (TTN) | XP_011510031.1:p.Thr34838Ile | |
| XM_011511730.1:c.78407C>T (TTN) | XP_011510032.1:p.Thr26136Ile | |
| XM_011511731.1:c.78266C>T (TTN) | XP_011510033.1:p.Thr26089Ile | |
| XM_017004819.1:c.104309C>T (TTN) | XP_016860308.1:p.Thr34770Ile | |
| XM_017004820.1:c.99707C>T (TTN) | XP_016860309.1:p.Thr33236Ile | |
| XM_017004821.1:c.99704C>T (TTN) | XP_016860310.1:p.Thr33235Ile | |
| XM_017004822.1:c.96746C>T (TTN) | XP_016860311.1:p.Thr32249Ile | |
| XM_017004823.1:c.78362C>T (TTN) | XP_016860312.1:p.Thr26121Ile | |
| XM_024453094.1:c.99857C>T (TTN) | XP_024308862.1:p.Thr33286Ile | |
| XM_024453095.1:c.99854C>T (TTN) | XP_024308863.1:p.Thr33285Ile | |
| XM_024453096.1:c.99287C>T (TTN) | XP_024308864.1:p.Thr33096Ile | |
| XM_024453097.1:c.96629C>T (TTN) | XP_024308865.1:p.Thr32210Ile | |
| XM_024453098.1:c.96548C>T (TTN) | XP_024308866.1:p.Thr32183Ile | |
| XM_024453099.1:c.78311C>T (TTN) | XP_024308867.1:p.Thr26104Ile | |
| XM_024453100.1:c.68165C>T (TTN) | XP_024308868.1:p.Thr22722Ile |