Linked Data
ClinVar Variation Id:
467264
ClinVar RCV Id:
RCV000546800
RCV000834832
RCV001136060
RCV001136061
RCV001136062
RCV001136063
RCV001136064
dbSNP Id:
rs375895183
ExAC:
2:179469622 C / T
gnomAD v2:
2-179469622-C-T
gnomAD v3:
2-178604895-C-T
gnomAD v4:
2-178604895-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178604895C>T , CM000664.2:g.178604895C>T | GRCh38 |
| NC_000002.11:g.179469622C>T , CM000664.1:g.179469622C>T | GRCh37 |
| NC_000002.10:g.179177867C>T | NCBI36 |
| NG_011618.3:g.230908G>A , LRG_391:g.230908G>A | |
| NG_051363.1:g.87069C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46490G>A (TTN) | ENSP00000343764.6:p.Arg15497His | |
| ENST00000342175.11:c.27575G>A (TTN) | ENSP00000340554.6:p.Arg9192His | |
| ENST00000359218.10:c.27374G>A (TTN) | ENSP00000352154.5:p.Arg9125His | |
| ENST00000342175.10:c.27575G>A (TTN) | ENSP00000340554.6:p.Arg9192His | |
| ENST00000342992.10:c.46490G>A (TTN) | ENSP00000343764.6:p.Arg15497His | |
| ENST00000359218.9:c.27374G>A (TTN) | ENSP00000352154.5:p.Arg9125His | |
| ENST00000460472.6:c.26999G>A (TTN) | ENSP00000434586.1:p.Arg9000His | |
| ENST00000589042.5:c.54194G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg18065His | |
| ENST00000591111.5:c.49271G>A (TTN) | ENSP00000465570.1:p.Arg16424His | |
| ENST00000615779.4:c.49271G>A (TTN) | ENSP00000483597.1:p.Arg16424His | |
| NM_001256850.1:c.49271G>A (TTN) | NP_001243779.1:p.Arg16424His | |
| NM_001267550.2:c.54194G>A (TTN) MANE Select | NP_001254479.2:p.Arg18065His | |
| NM_003319.4:c.26999G>A (TTN) | NP_003310.4:p.Arg9000His | |
| NM_133378.4:c.46490G>A (TTN) | NP_596869.4:p.Arg15497His | |
| NM_133432.3:c.27374G>A (TTN) | NP_597676.3:p.Arg9125His | |
| NM_133437.4:c.27575G>A (TTN) | NP_597681.4:p.Arg9192His | |
| NR_038271.1:n.683-3272C>T (TTN-AS1) | ||
| NR_038272.1:n.4082C>T (TTN-AS1) | ||
| XM_011511729.1:c.53291G>A (TTN) | XP_011510031.1:p.Arg17764His | |
| XM_011511730.1:c.27185G>A (TTN) | XP_011510032.1:p.Arg9062His | |
| XM_011511731.1:c.27044G>A (TTN) | XP_011510033.1:p.Arg9015His | |
| XM_017004819.1:c.53087G>A (TTN) | XP_016860308.1:p.Arg17696His | |
| XM_017004820.1:c.48485G>A (TTN) | XP_016860309.1:p.Arg16162His | |
| XM_017004821.1:c.48482G>A (TTN) | XP_016860310.1:p.Arg16161His | |
| XM_017004822.1:c.45524G>A (TTN) | XP_016860311.1:p.Arg15175His | |
| XM_017004823.1:c.27140G>A (TTN) | XP_016860312.1:p.Arg9047His | |
| XM_024453094.1:c.48635G>A (TTN) | XP_024308862.1:p.Arg16212His | |
| XM_024453095.1:c.48632G>A (TTN) | XP_024308863.1:p.Arg16211His | |
| XM_024453096.1:c.48065G>A (TTN) | XP_024308864.1:p.Arg16022His | |
| XM_024453097.1:c.45407G>A (TTN) | XP_024308865.1:p.Arg15136His | |
| XM_024453098.1:c.45326G>A (TTN) | XP_024308866.1:p.Arg15109His | |
| XM_024453099.1:c.27089G>A (TTN) | XP_024308867.1:p.Arg9030His | |
| XM_024453100.1:c.16943G>A (TTN) | XP_024308868.1:p.Arg5648His |