Linked Data
ClinVar Variation Id:
179002
ClinVar RCV Id:
RCV000155780
RCV000172245
RCV000254311
RCV000291098
RCV000316713
RCV000330851
RCV000385420
RCV000371276
RCV001078567
RCV001170788
RCV001293186
dbSNP Id:
rs377506142
ExAC:
2:179430001 G / A
gnomAD v2:
2-179430001-G-A
gnomAD v3:
2-178565274-G-A
gnomAD v4:
2-178565274-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565274G>A , CM000664.2:g.178565274G>A | GRCh38 |
| NC_000002.11:g.179430001G>A , CM000664.1:g.179430001G>A | GRCh37 |
| NC_000002.10:g.179138247G>A | NCBI36 |
| NG_011618.3:g.270529C>T , LRG_391:g.270529C>T | |
| NG_051363.1:g.47448G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73154C>T (TTN) | ENSP00000343764.6:p.Thr24385Met | |
| ENST00000342175.11:c.54239C>T (TTN) | ENSP00000340554.6:p.Thr18080Met | |
| ENST00000359218.10:c.54038C>T (TTN) | ENSP00000352154.5:p.Thr18013Met | |
| ENST00000342175.10:c.54239C>T (TTN) | ENSP00000340554.6:p.Thr18080Met | |
| ENST00000342992.10:c.73154C>T (TTN) | ENSP00000343764.6:p.Thr24385Met | |
| ENST00000359218.9:c.54038C>T (TTN) | ENSP00000352154.5:p.Thr18013Met | |
| ENST00000460472.6:c.53663C>T (TTN) | ENSP00000434586.1:p.Thr17888Met | |
| ENST00000589042.5:c.80858C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr26953Met | |
| ENST00000591111.5:c.75935C>T (TTN) | ENSP00000465570.1:p.Thr25312Met | |
| ENST00000615779.4:c.75935C>T (TTN) | ENSP00000483597.1:p.Thr25312Met | |
| NM_001256850.1:c.75935C>T (TTN) | NP_001243779.1:p.Thr25312Met | |
| NM_001267550.2:c.80858C>T (TTN) MANE Select | NP_001254479.2:p.Thr26953Met | |
| NM_003319.4:c.53663C>T (TTN) | NP_003310.4:p.Thr17888Met | |
| NM_133378.4:c.73154C>T (TTN) | NP_596869.4:p.Thr24385Met | |
| NM_133432.3:c.54038C>T (TTN) | NP_597676.3:p.Thr18013Met | |
| NM_133437.4:c.54239C>T (TTN) | NP_597681.4:p.Thr18080Met | |
| NR_038271.1:n.447-6026G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-17298G>A (TTN-AS1) | ||
| XM_011511729.1:c.79955C>T (TTN) | XP_011510031.1:p.Thr26652Met | |
| XM_011511730.1:c.53849C>T (TTN) | XP_011510032.1:p.Thr17950Met | |
| XM_011511731.1:c.53708C>T (TTN) | XP_011510033.1:p.Thr17903Met | |
| XM_017004819.1:c.79751C>T (TTN) | XP_016860308.1:p.Thr26584Met | |
| XM_017004820.1:c.75149C>T (TTN) | XP_016860309.1:p.Thr25050Met | |
| XM_017004821.1:c.75146C>T (TTN) | XP_016860310.1:p.Thr25049Met | |
| XM_017004822.1:c.72188C>T (TTN) | XP_016860311.1:p.Thr24063Met | |
| XM_017004823.1:c.53804C>T (TTN) | XP_016860312.1:p.Thr17935Met | |
| XM_024453094.1:c.75299C>T (TTN) | XP_024308862.1:p.Thr25100Met | |
| XM_024453095.1:c.75296C>T (TTN) | XP_024308863.1:p.Thr25099Met | |
| XM_024453096.1:c.74729C>T (TTN) | XP_024308864.1:p.Thr24910Met | |
| XM_024453097.1:c.72071C>T (TTN) | XP_024308865.1:p.Thr24024Met | |
| XM_024453098.1:c.71990C>T (TTN) | XP_024308866.1:p.Thr23997Met | |
| XM_024453099.1:c.53753C>T (TTN) | XP_024308867.1:p.Thr17918Met | |
| XM_024453100.1:c.43607C>T (TTN) | XP_024308868.1:p.Thr14536Met |