Linked Data
ClinVar Variation Id:
47412
ClinVar RCV Id:
RCV000040682
RCV000184884
RCV000620912
RCV000768904
RCV001086569
RCV001135731
RCV001135727
RCV001135728
RCV001135729
RCV001135730
RCV004534933
dbSNP Id:
rs201158906
ExAC:
2:179428370 C / T
gnomAD v2:
2-179428370-C-T
gnomAD v3:
2-178563643-C-T
gnomAD v4:
2-178563643-C-T
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178563643C>T , CM000664.2:g.178563643C>T | GRCh38 |
| NC_000002.11:g.179428370C>T , CM000664.1:g.179428370C>T | GRCh37 |
| NC_000002.10:g.179136616C>T | NCBI36 |
| NG_011618.3:g.272160G>A , LRG_391:g.272160G>A | |
| NG_051363.1:g.45817C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.74785G>A (TTN) | ENSP00000343764.6:p.Gly24929Arg | |
| ENST00000342175.11:c.55870G>A (TTN) | ENSP00000340554.6:p.Gly18624Arg | |
| ENST00000359218.10:c.55669G>A (TTN) | ENSP00000352154.5:p.Gly18557Arg | |
| ENST00000342175.10:c.55870G>A (TTN) | ENSP00000340554.6:p.Gly18624Arg | |
| ENST00000342992.10:c.74785G>A (TTN) | ENSP00000343764.6:p.Gly24929Arg | |
| ENST00000359218.9:c.55669G>A (TTN) | ENSP00000352154.5:p.Gly18557Arg | |
| ENST00000460472.6:c.55294G>A (TTN) | ENSP00000434586.1:p.Gly18432Arg | |
| ENST00000589042.5:c.82489G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly27497Arg | |
| ENST00000591111.5:c.77566G>A (TTN) | ENSP00000465570.1:p.Gly25856Arg | |
| ENST00000615779.4:c.77566G>A (TTN) | ENSP00000483597.1:p.Gly25856Arg | |
| NM_001256850.1:c.77566G>A (TTN) | NP_001243779.1:p.Gly25856Arg | |
| NM_001267550.2:c.82489G>A (TTN) MANE Select | NP_001254479.2:p.Gly27497Arg | |
| NM_003319.4:c.55294G>A (TTN) | NP_003310.4:p.Gly18432Arg | |
| NM_133378.4:c.74785G>A (TTN) | NP_596869.4:p.Gly24929Arg | |
| NM_133432.3:c.55669G>A (TTN) | NP_597676.3:p.Gly18557Arg | |
| NM_133437.4:c.55870G>A (TTN) | NP_597681.4:p.Gly18624Arg | |
| NR_038271.1:n.447-7657C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-18929C>T (TTN-AS1) | ||
| XM_011511729.1:c.81586G>A (TTN) | XP_011510031.1:p.Gly27196Arg | |
| XM_011511730.1:c.55480G>A (TTN) | XP_011510032.1:p.Gly18494Arg | |
| XM_011511731.1:c.55339G>A (TTN) | XP_011510033.1:p.Gly18447Arg | |
| XM_017004819.1:c.81382G>A (TTN) | XP_016860308.1:p.Gly27128Arg | |
| XM_017004820.1:c.76780G>A (TTN) | XP_016860309.1:p.Gly25594Arg | |
| XM_017004821.1:c.76777G>A (TTN) | XP_016860310.1:p.Gly25593Arg | |
| XM_017004822.1:c.73819G>A (TTN) | XP_016860311.1:p.Gly24607Arg | |
| XM_017004823.1:c.55435G>A (TTN) | XP_016860312.1:p.Gly18479Arg | |
| XM_024453094.1:c.76930G>A (TTN) | XP_024308862.1:p.Gly25644Arg | |
| XM_024453095.1:c.76927G>A (TTN) | XP_024308863.1:p.Gly25643Arg | |
| XM_024453096.1:c.76360G>A (TTN) | XP_024308864.1:p.Gly25454Arg | |
| XM_024453097.1:c.73702G>A (TTN) | XP_024308865.1:p.Gly24568Arg | |
| XM_024453098.1:c.73621G>A (TTN) | XP_024308866.1:p.Gly24541Arg | |
| XM_024453099.1:c.55384G>A (TTN) | XP_024308867.1:p.Gly18462Arg | |
| XM_024453100.1:c.45238G>A (TTN) | XP_024308868.1:p.Gly15080Arg |