Linked Data
ClinVar Variation Id:
47277
ClinVar RCV Id:
RCV000040547
RCV000251867
RCV000714083
RCV001086284
RCV001133870
RCV001133871
RCV001133872
RCV001133873
RCV001133874
RCV001798176
RCV004534922
dbSNP Id:
rs201043950
ExAC:
2:179441038 C / T
gnomAD v2:
2-179441038-C-T
gnomAD v3:
2-178576311-C-T
gnomAD v4:
2-178576311-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178576311C>T , CM000664.2:g.178576311C>T | GRCh38 |
| NC_000002.11:g.179441038C>T , CM000664.1:g.179441038C>T | GRCh37 |
| NC_000002.10:g.179149284C>T | NCBI36 |
| NG_011618.3:g.259492G>A , LRG_391:g.259492G>A | |
| NG_051363.1:g.58485C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62117G>A (TTN) | ENSP00000343764.6:p.Gly20706Asp | |
| ENST00000342175.11:c.43202G>A (TTN) | ENSP00000340554.6:p.Gly14401Asp | |
| ENST00000359218.10:c.43001G>A (TTN) | ENSP00000352154.5:p.Gly14334Asp | |
| ENST00000342175.10:c.43202G>A (TTN) | ENSP00000340554.6:p.Gly14401Asp | |
| ENST00000342992.10:c.62117G>A (TTN) | ENSP00000343764.6:p.Gly20706Asp | |
| ENST00000359218.9:c.43001G>A (TTN) | ENSP00000352154.5:p.Gly14334Asp | |
| ENST00000460472.6:c.42626G>A (TTN) | ENSP00000434586.1:p.Gly14209Asp | |
| ENST00000589042.5:c.69821G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly23274Asp | |
| ENST00000591111.5:c.64898G>A (TTN) | ENSP00000465570.1:p.Gly21633Asp | |
| ENST00000615779.4:c.64898G>A (TTN) | ENSP00000483597.1:p.Gly21633Asp | |
| NM_001256850.1:c.64898G>A (TTN) | NP_001243779.1:p.Gly21633Asp | |
| NM_001267550.2:c.69821G>A (TTN) MANE Select | NP_001254479.2:p.Gly23274Asp | |
| NM_003319.4:c.42626G>A (TTN) | NP_003310.4:p.Gly14209Asp | |
| NM_133378.4:c.62117G>A (TTN) | NP_596869.4:p.Gly20706Asp | |
| NM_133432.3:c.43001G>A (TTN) | NP_597676.3:p.Gly14334Asp | |
| NM_133437.4:c.43202G>A (TTN) | NP_597681.4:p.Gly14401Asp | |
| NR_038271.1:n.596+4862C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-6261C>T (TTN-AS1) | ||
| XM_011511729.1:c.68918G>A (TTN) | XP_011510031.1:p.Gly22973Asp | |
| XM_011511730.1:c.42812G>A (TTN) | XP_011510032.1:p.Gly14271Asp | |
| XM_011511731.1:c.42671G>A (TTN) | XP_011510033.1:p.Gly14224Asp | |
| XM_017004819.1:c.68714G>A (TTN) | XP_016860308.1:p.Gly22905Asp | |
| XM_017004820.1:c.64112G>A (TTN) | XP_016860309.1:p.Gly21371Asp | |
| XM_017004821.1:c.64109G>A (TTN) | XP_016860310.1:p.Gly21370Asp | |
| XM_017004822.1:c.61151G>A (TTN) | XP_016860311.1:p.Gly20384Asp | |
| XM_017004823.1:c.42767G>A (TTN) | XP_016860312.1:p.Gly14256Asp | |
| XM_024453094.1:c.64262G>A (TTN) | XP_024308862.1:p.Gly21421Asp | |
| XM_024453095.1:c.64259G>A (TTN) | XP_024308863.1:p.Gly21420Asp | |
| XM_024453096.1:c.63692G>A (TTN) | XP_024308864.1:p.Gly21231Asp | |
| XM_024453097.1:c.61034G>A (TTN) | XP_024308865.1:p.Gly20345Asp | |
| XM_024453098.1:c.60953G>A (TTN) | XP_024308866.1:p.Gly20318Asp | |
| XM_024453099.1:c.42716G>A (TTN) | XP_024308867.1:p.Gly14239Asp | |
| XM_024453100.1:c.32570G>A (TTN) | XP_024308868.1:p.Gly10857Asp |