Linked Data
ClinVar Variation Id:
202664
ClinVar RCV Id:
RCV000472131
RCV000727759
RCV000769002
RCV001135854
RCV001135855
RCV001135857
RCV001135856
RCV001135858
RCV003235107
dbSNP Id:
rs2303830
ExAC:
2:179480434 G / A
gnomAD v2:
2-179480434-G-A
gnomAD v3:
2-178615707-G-A
gnomAD v4:
2-178615707-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178615707G>A , CM000664.2:g.178615707G>A | GRCh38 |
| NC_000002.11:g.179480434G>A , CM000664.1:g.179480434G>A | GRCh37 |
| NC_000002.10:g.179188679G>A | NCBI36 |
| NG_011618.3:g.220096C>T , LRG_391:g.220096C>T | |
| NG_051363.1:g.97881G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40690C>T (TTN) | ENSP00000343764.6:p.Arg13564Cys | |
| ENST00000342175.11:c.21775C>T (TTN) | ENSP00000340554.6:p.Arg7259Cys | |
| ENST00000359218.10:c.21574C>T (TTN) | ENSP00000352154.5:p.Arg7192Cys | |
| ENST00000342175.10:c.21775C>T (TTN) | ENSP00000340554.6:p.Arg7259Cys | |
| ENST00000342992.10:c.40690C>T (TTN) | ENSP00000343764.6:p.Arg13564Cys | |
| ENST00000359218.9:c.21574C>T (TTN) | ENSP00000352154.5:p.Arg7192Cys | |
| ENST00000460472.6:c.21199C>T (TTN) | ENSP00000434586.1:p.Arg7067Cys | |
| ENST00000589042.5:c.48394C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg16132Cys | |
| ENST00000591111.5:c.43471C>T (TTN) | ENSP00000465570.1:p.Arg14491Cys | |
| ENST00000615779.4:c.43471C>T (TTN) | ENSP00000483597.1:p.Arg14491Cys | |
| NM_001256850.1:c.43471C>T (TTN) | NP_001243779.1:p.Arg14491Cys | |
| NM_001267550.2:c.48394C>T (TTN) MANE Select | NP_001254479.2:p.Arg16132Cys | |
| NM_003319.4:c.21199C>T (TTN) | NP_003310.4:p.Arg7067Cys | |
| NM_133378.4:c.40690C>T (TTN) | NP_596869.4:p.Arg13564Cys | |
| NM_133432.3:c.21574C>T (TTN) | NP_597676.3:p.Arg7192Cys | |
| NM_133437.4:c.21775C>T (TTN) | NP_597681.4:p.Arg7259Cys | |
| NR_038271.1:n.1604+333G>A (TTN-AS1) | ||
| XM_011511729.1:c.47491C>T (TTN) | XP_011510031.1:p.Arg15831Cys | |
| XM_011511730.1:c.21385C>T (TTN) | XP_011510032.1:p.Arg7129Cys | |
| XM_011511731.1:c.21244C>T (TTN) | XP_011510033.1:p.Arg7082Cys | |
| XM_017004819.1:c.47287C>T (TTN) | XP_016860308.1:p.Arg15763Cys | |
| XM_017004820.1:c.42685C>T (TTN) | XP_016860309.1:p.Arg14229Cys | |
| XM_017004821.1:c.42682C>T (TTN) | XP_016860310.1:p.Arg14228Cys | |
| XM_017004822.1:c.39724C>T (TTN) | XP_016860311.1:p.Arg13242Cys | |
| XM_017004823.1:c.21340C>T (TTN) | XP_016860312.1:p.Arg7114Cys | |
| XM_024453094.1:c.42835C>T (TTN) | XP_024308862.1:p.Arg14279Cys | |
| XM_024453095.1:c.42832C>T (TTN) | XP_024308863.1:p.Arg14278Cys | |
| XM_024453096.1:c.42265C>T (TTN) | XP_024308864.1:p.Arg14089Cys | |
| XM_024453097.1:c.39607C>T (TTN) | XP_024308865.1:p.Arg13203Cys | |
| XM_024453098.1:c.39526C>T (TTN) | XP_024308866.1:p.Arg13176Cys | |
| XM_024453099.1:c.21289C>T (TTN) | XP_024308867.1:p.Arg7097Cys | |
| XM_024453100.1:c.11143C>T (TTN) | XP_024308868.1:p.Arg3715Cys |