Linked Data
ClinVar Variation Id:
47501
ClinVar RCV Id:
RCV000040770
RCV000082445
RCV000286969
RCV000278620
RCV000327591
RCV000376846
RCV000373393
RCV000618823
RCV000852794
RCV001083184
RCV001798195
RCV003993769
dbSNP Id:
rs150430592
ExAC:
2:179416801 A / C
gnomAD v2:
2-179416801-A-C
gnomAD v3:
2-178552074-A-C
gnomAD v4:
2-178552074-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178552074A>C , CM000664.2:g.178552074A>C | GRCh38 |
| NC_000002.11:g.179416801A>C , CM000664.1:g.179416801A>C | GRCh37 |
| NC_000002.10:g.179125047A>C | NCBI36 |
| NG_011618.3:g.283729T>G , LRG_391:g.283729T>G | |
| NG_051363.1:g.34248A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83122T>G (TTN) | ENSP00000343764.6:p.Cys27708Gly | |
| ENST00000342175.11:c.64207T>G (TTN) | ENSP00000340554.6:p.Cys21403Gly | |
| ENST00000359218.10:c.64006T>G (TTN) | ENSP00000352154.5:p.Cys21336Gly | |
| ENST00000342175.10:c.64207T>G (TTN) | ENSP00000340554.6:p.Cys21403Gly | |
| ENST00000342992.10:c.83122T>G (TTN) | ENSP00000343764.6:p.Cys27708Gly | |
| ENST00000359218.9:c.64006T>G (TTN) | ENSP00000352154.5:p.Cys21336Gly | |
| ENST00000460472.6:c.63631T>G (TTN) | ENSP00000434586.1:p.Cys21211Gly | |
| ENST00000589042.5:c.90826T>G (TTN) MANE Select | ENSP00000467141.1:p.Cys30276Gly | |
| ENST00000591111.5:c.85903T>G (TTN) | ENSP00000465570.1:p.Cys28635Gly | |
| ENST00000615779.4:c.85903T>G (TTN) | ENSP00000483597.1:p.Cys28635Gly | |
| NM_001256850.1:c.85903T>G (TTN) | NP_001243779.1:p.Cys28635Gly | |
| NM_001267550.2:c.90826T>G (TTN) MANE Select | NP_001254479.2:p.Cys30276Gly | |
| NM_003319.4:c.63631T>G (TTN) | NP_003310.4:p.Cys21211Gly | |
| NM_133378.4:c.83122T>G (TTN) | NP_596869.4:p.Cys27708Gly | |
| NM_133432.3:c.64006T>G (TTN) | NP_597676.3:p.Cys21336Gly | |
| NM_133437.4:c.64207T>G (TTN) | NP_597681.4:p.Cys21403Gly | |
| NR_038271.1:n.447-19226A>C (TTN-AS1) | ||
| NR_038272.1:n.2043+9713A>C (TTN-AS1) | ||
| XM_011511729.1:c.89923T>G (TTN) | XP_011510031.1:p.Cys29975Gly | |
| XM_011511730.1:c.63817T>G (TTN) | XP_011510032.1:p.Cys21273Gly | |
| XM_011511731.1:c.63676T>G (TTN) | XP_011510033.1:p.Cys21226Gly | |
| XM_017004819.1:c.89719T>G (TTN) | XP_016860308.1:p.Cys29907Gly | |
| XM_017004820.1:c.85117T>G (TTN) | XP_016860309.1:p.Cys28373Gly | |
| XM_017004821.1:c.85114T>G (TTN) | XP_016860310.1:p.Cys28372Gly | |
| XM_017004822.1:c.82156T>G (TTN) | XP_016860311.1:p.Cys27386Gly | |
| XM_017004823.1:c.63772T>G (TTN) | XP_016860312.1:p.Cys21258Gly | |
| XM_024453094.1:c.85267T>G (TTN) | XP_024308862.1:p.Cys28423Gly | |
| XM_024453095.1:c.85264T>G (TTN) | XP_024308863.1:p.Cys28422Gly | |
| XM_024453096.1:c.84697T>G (TTN) | XP_024308864.1:p.Cys28233Gly | |
| XM_024453097.1:c.82039T>G (TTN) | XP_024308865.1:p.Cys27347Gly | |
| XM_024453098.1:c.81958T>G (TTN) | XP_024308866.1:p.Cys27320Gly | |
| XM_024453099.1:c.63721T>G (TTN) | XP_024308867.1:p.Cys21241Gly | |
| XM_024453100.1:c.53575T>G (TTN) | XP_024308868.1:p.Cys17859Gly |