Linked Data
ClinVar Variation Id:
191858
ClinVar RCV Id:
RCV000172206
RCV000317539
RCV001130534
RCV001130536
RCV000852797
RCV001083916
RCV001130533
RCV001130535
RCV001130537
RCV002362885
RCV004539584
dbSNP Id:
rs72648240
ExAC:
2:179417919 G / C
gnomAD v2:
2-179417919-G-C
gnomAD v3:
2-178553192-G-C
gnomAD v4:
2-178553192-G-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178553192G>C , CM000664.2:g.178553192G>C | GRCh38 |
| NC_000002.11:g.179417919G>C , CM000664.1:g.179417919G>C | GRCh37 |
| NC_000002.10:g.179126165G>C | NCBI36 |
| NG_011618.3:g.282611C>G , LRG_391:g.282611C>G | |
| NG_051363.1:g.35366G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.82004C>G (TTN) | ENSP00000343764.6:p.Thr27335Ser | |
| ENST00000342175.11:c.63089C>G (TTN) | ENSP00000340554.6:p.Thr21030Ser | |
| ENST00000359218.10:c.62888C>G (TTN) | ENSP00000352154.5:p.Thr20963Ser | |
| ENST00000342175.10:c.63089C>G (TTN) | ENSP00000340554.6:p.Thr21030Ser | |
| ENST00000342992.10:c.82004C>G (TTN) | ENSP00000343764.6:p.Thr27335Ser | |
| ENST00000359218.9:c.62888C>G (TTN) | ENSP00000352154.5:p.Thr20963Ser | |
| ENST00000460472.6:c.62513C>G (TTN) | ENSP00000434586.1:p.Thr20838Ser | |
| ENST00000589042.5:c.89708C>G (TTN) MANE Select | ENSP00000467141.1:p.Thr29903Ser | |
| ENST00000591111.5:c.84785C>G (TTN) | ENSP00000465570.1:p.Thr28262Ser | |
| ENST00000615779.4:c.84785C>G (TTN) | ENSP00000483597.1:p.Thr28262Ser | |
| NM_001256850.1:c.84785C>G (TTN) | NP_001243779.1:p.Thr28262Ser | |
| NM_001267550.2:c.89708C>G (TTN) MANE Select | NP_001254479.2:p.Thr29903Ser | |
| NM_003319.4:c.62513C>G (TTN) | NP_003310.4:p.Thr20838Ser | |
| NM_133378.4:c.82004C>G (TTN) | NP_596869.4:p.Thr27335Ser | |
| NM_133432.3:c.62888C>G (TTN) | NP_597676.3:p.Thr20963Ser | |
| NM_133437.4:c.63089C>G (TTN) | NP_597681.4:p.Thr21030Ser | |
| NR_038271.1:n.447-18108G>C (TTN-AS1) | ||
| NR_038272.1:n.2043+10831G>C (TTN-AS1) | ||
| XM_011511729.1:c.88805C>G (TTN) | XP_011510031.1:p.Thr29602Ser | |
| XM_011511730.1:c.62699C>G (TTN) | XP_011510032.1:p.Thr20900Ser | |
| XM_011511731.1:c.62558C>G (TTN) | XP_011510033.1:p.Thr20853Ser | |
| XM_017004819.1:c.88601C>G (TTN) | XP_016860308.1:p.Thr29534Ser | |
| XM_017004820.1:c.83999C>G (TTN) | XP_016860309.1:p.Thr28000Ser | |
| XM_017004821.1:c.83996C>G (TTN) | XP_016860310.1:p.Thr27999Ser | |
| XM_017004822.1:c.81038C>G (TTN) | XP_016860311.1:p.Thr27013Ser | |
| XM_017004823.1:c.62654C>G (TTN) | XP_016860312.1:p.Thr20885Ser | |
| XM_024453094.1:c.84149C>G (TTN) | XP_024308862.1:p.Thr28050Ser | |
| XM_024453095.1:c.84146C>G (TTN) | XP_024308863.1:p.Thr28049Ser | |
| XM_024453096.1:c.83579C>G (TTN) | XP_024308864.1:p.Thr27860Ser | |
| XM_024453097.1:c.80921C>G (TTN) | XP_024308865.1:p.Thr26974Ser | |
| XM_024453098.1:c.80840C>G (TTN) | XP_024308866.1:p.Thr26947Ser | |
| XM_024453099.1:c.62603C>G (TTN) | XP_024308867.1:p.Thr20868Ser | |
| XM_024453100.1:c.52457C>G (TTN) | XP_024308868.1:p.Thr17486Ser |