Linked Data
ClinVar Variation Id:
47722
ClinVar RCV Id:
RCV000040991
RCV000621101
RCV000466809
RCV001135817
RCV001135818
RCV001135819
RCV001135820
RCV001703920
RCV001134356
dbSNP Id:
rs201835888
ExAC:
2:179392248 T / C
gnomAD v2:
2-179392248-T-C
gnomAD v3:
2-178527521-T-C
gnomAD v4:
2-178527521-T-C
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527521T>C , CM000664.2:g.178527521T>C | GRCh38 |
| NC_000002.11:g.179392248T>C , CM000664.1:g.179392248T>C | GRCh37 |
| NC_000002.10:g.179100494T>C | NCBI36 |
| NG_011618.3:g.308282A>G , LRG_391:g.308282A>G | |
| NG_051363.1:g.9695T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99901A>G (TTN) | ENSP00000343764.6:p.Ser33301Gly | |
| ENST00000342175.11:c.80986A>G (TTN) | ENSP00000340554.6:p.Ser26996Gly | |
| ENST00000359218.10:c.80785A>G (TTN) | ENSP00000352154.5:p.Ser26929Gly | |
| ENST00000342175.10:c.80986A>G (TTN) | ENSP00000340554.6:p.Ser26996Gly | |
| ENST00000342992.10:c.99901A>G (TTN) | ENSP00000343764.6:p.Ser33301Gly | |
| ENST00000359218.9:c.80785A>G (TTN) | ENSP00000352154.5:p.Ser26929Gly | |
| ENST00000460472.6:c.80410A>G (TTN) | ENSP00000434586.1:p.Ser26804Gly | |
| ENST00000589042.5:c.107605A>G (TTN) MANE Select | ENSP00000467141.1:p.Ser35869Gly | |
| ENST00000591111.5:c.102682A>G (TTN) | ENSP00000465570.1:p.Ser34228Gly | |
| ENST00000615779.4:c.102682A>G (TTN) | ENSP00000483597.1:p.Ser34228Gly | |
| NM_001256850.1:c.102682A>G (TTN) | NP_001243779.1:p.Ser34228Gly | |
| NM_001267550.2:c.107605A>G (TTN) MANE Select | NP_001254479.2:p.Ser35869Gly | |
| NM_003319.4:c.80410A>G (TTN) | NP_003310.4:p.Ser26804Gly | |
| NM_133378.4:c.99901A>G (TTN) | NP_596869.4:p.Ser33301Gly | |
| NM_133432.3:c.80785A>G (TTN) | NP_597676.3:p.Ser26929Gly | |
| NM_133437.4:c.80986A>G (TTN) | NP_597681.4:p.Ser26996Gly | |
| NR_038271.1:n.446+3885T>C (TTN-AS1) | ||
| NR_038272.1:n.219+3885T>C (TTN-AS1) | ||
| XM_011511729.1:c.106702A>G (TTN) | XP_011510031.1:p.Ser35568Gly | |
| XM_011511730.1:c.80596A>G (TTN) | XP_011510032.1:p.Ser26866Gly | |
| XM_011511731.1:c.80455A>G (TTN) | XP_011510033.1:p.Ser26819Gly | |
| XM_017004819.1:c.106498A>G (TTN) | XP_016860308.1:p.Ser35500Gly | |
| XM_017004820.1:c.101896A>G (TTN) | XP_016860309.1:p.Ser33966Gly | |
| XM_017004821.1:c.101893A>G (TTN) | XP_016860310.1:p.Ser33965Gly | |
| XM_017004822.1:c.98935A>G (TTN) | XP_016860311.1:p.Ser32979Gly | |
| XM_017004823.1:c.80551A>G (TTN) | XP_016860312.1:p.Ser26851Gly | |
| XM_024453094.1:c.102046A>G (TTN) | XP_024308862.1:p.Ser34016Gly | |
| XM_024453095.1:c.102043A>G (TTN) | XP_024308863.1:p.Ser34015Gly | |
| XM_024453096.1:c.101476A>G (TTN) | XP_024308864.1:p.Ser33826Gly | |
| XM_024453097.1:c.98818A>G (TTN) | XP_024308865.1:p.Ser32940Gly | |
| XM_024453098.1:c.98737A>G (TTN) | XP_024308866.1:p.Ser32913Gly | |
| XM_024453099.1:c.80500A>G (TTN) | XP_024308867.1:p.Ser26834Gly | |
| XM_024453100.1:c.70354A>G (TTN) | XP_024308868.1:p.Ser23452Gly |