Linked Data
ClinVar Variation Id:
47316
ClinVar RCV Id:
RCV000040586
RCV000228478
RCV000271701
RCV000277214
RCV000326784
RCV000366295
RCV000381449
RCV000619087
RCV000769953
RCV001528463
dbSNP Id:
rs56293906
ExAC:
2:179438235 T / C
gnomAD v2:
2-179438235-T-C
gnomAD v3:
2-178573508-T-C
gnomAD v4:
2-178573508-T-C
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573508T>C , CM000664.2:g.178573508T>C | GRCh38 |
| NC_000002.11:g.179438235T>C , CM000664.1:g.179438235T>C | GRCh37 |
| NC_000002.10:g.179146481T>C | NCBI36 |
| NG_011618.3:g.262295A>G , LRG_391:g.262295A>G | |
| NG_051363.1:g.55682T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64920A>G (TTN) | ENSP00000343764.6:p.Pro21640= | |
| ENST00000342175.11:c.46005A>G (TTN) | ENSP00000340554.6:p.Pro15335= | |
| ENST00000359218.10:c.45804A>G (TTN) | ENSP00000352154.5:p.Pro15268= | |
| ENST00000342175.10:c.46005A>G (TTN) | ENSP00000340554.6:p.Pro15335= | |
| ENST00000342992.10:c.64920A>G (TTN) | ENSP00000343764.6:p.Pro21640= | |
| ENST00000359218.9:c.45804A>G (TTN) | ENSP00000352154.5:p.Pro15268= | |
| ENST00000460472.6:c.45429A>G (TTN) | ENSP00000434586.1:p.Pro15143= | |
| ENST00000589042.5:c.72624A>G (TTN) MANE Select | ENSP00000467141.1:p.Pro24208= | |
| ENST00000591111.5:c.67701A>G (TTN) | ENSP00000465570.1:p.Pro22567= | |
| ENST00000615779.4:c.67701A>G (TTN) | ENSP00000483597.1:p.Pro22567= | |
| NM_001256850.1:c.67701A>G (TTN) | NP_001243779.1:p.Pro22567= | |
| NM_001267550.2:c.72624A>G (TTN) MANE Select | NP_001254479.2:p.Pro24208= | |
| NM_003319.4:c.45429A>G (TTN) | NP_003310.4:p.Pro15143= | |
| NM_133378.4:c.64920A>G (TTN) | NP_596869.4:p.Pro21640= | |
| NM_133432.3:c.45804A>G (TTN) | NP_597676.3:p.Pro15268= | |
| NM_133437.4:c.46005A>G (TTN) | NP_597681.4:p.Pro15335= | |
| NR_038271.1:n.596+2059T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-9064T>C (TTN-AS1) | ||
| XM_011511729.1:c.71721A>G (TTN) | XP_011510031.1:p.Pro23907= | |
| XM_011511730.1:c.45615A>G (TTN) | XP_011510032.1:p.Pro15205= | |
| XM_011511731.1:c.45474A>G (TTN) | XP_011510033.1:p.Pro15158= | |
| XM_017004819.1:c.71517A>G (TTN) | XP_016860308.1:p.Pro23839= | |
| XM_017004820.1:c.66915A>G (TTN) | XP_016860309.1:p.Pro22305= | |
| XM_017004821.1:c.66912A>G (TTN) | XP_016860310.1:p.Pro22304= | |
| XM_017004822.1:c.63954A>G (TTN) | XP_016860311.1:p.Pro21318= | |
| XM_017004823.1:c.45570A>G (TTN) | XP_016860312.1:p.Pro15190= | |
| XM_024453094.1:c.67065A>G (TTN) | XP_024308862.1:p.Pro22355= | |
| XM_024453095.1:c.67062A>G (TTN) | XP_024308863.1:p.Pro22354= | |
| XM_024453096.1:c.66495A>G (TTN) | XP_024308864.1:p.Pro22165= | |
| XM_024453097.1:c.63837A>G (TTN) | XP_024308865.1:p.Pro21279= | |
| XM_024453098.1:c.63756A>G (TTN) | XP_024308866.1:p.Pro21252= | |
| XM_024453099.1:c.45519A>G (TTN) | XP_024308867.1:p.Pro15173= | |
| XM_024453100.1:c.35373A>G (TTN) | XP_024308868.1:p.Pro11791= |