Linked Data
ClinVar Variation Id:
404800
ClinVar RCV Id:
RCV000475458
RCV000839289
RCV001131256
RCV001131257
RCV001131258
RCV001131259
RCV001130529
RCV003486846
dbSNP Id:
rs375368824
ExAC:
2:179408930 A / C
gnomAD v2:
2-179408930-A-C
gnomAD v3:
2-178544203-A-C
gnomAD v4:
2-178544203-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544203A>C , CM000664.2:g.178544203A>C | GRCh38 |
| NC_000002.11:g.179408930A>C , CM000664.1:g.179408930A>C | GRCh37 |
| NC_000002.10:g.179117176A>C | NCBI36 |
| NG_011618.3:g.291600T>G , LRG_391:g.291600T>G | |
| NG_051363.1:g.26377A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88322T>G (TTN) | ENSP00000343764.6:p.Ile29441Arg | |
| ENST00000342175.11:c.69407T>G (TTN) | ENSP00000340554.6:p.Ile23136Arg | |
| ENST00000359218.10:c.69206T>G (TTN) | ENSP00000352154.5:p.Ile23069Arg | |
| ENST00000342175.10:c.69407T>G (TTN) | ENSP00000340554.6:p.Ile23136Arg | |
| ENST00000342992.10:c.88322T>G (TTN) | ENSP00000343764.6:p.Ile29441Arg | |
| ENST00000359218.9:c.69206T>G (TTN) | ENSP00000352154.5:p.Ile23069Arg | |
| ENST00000460472.6:c.68831T>G (TTN) | ENSP00000434586.1:p.Ile22944Arg | |
| ENST00000589042.5:c.96026T>G (TTN) MANE Select | ENSP00000467141.1:p.Ile32009Arg | |
| ENST00000591111.5:c.91103T>G (TTN) | ENSP00000465570.1:p.Ile30368Arg | |
| ENST00000615779.4:c.91103T>G (TTN) | ENSP00000483597.1:p.Ile30368Arg | |
| NM_001256850.1:c.91103T>G (TTN) | NP_001243779.1:p.Ile30368Arg | |
| NM_001267550.2:c.96026T>G (TTN) MANE Select | NP_001254479.2:p.Ile32009Arg | |
| NM_003319.4:c.68831T>G (TTN) | NP_003310.4:p.Ile22944Arg | |
| NM_133378.4:c.88322T>G (TTN) | NP_596869.4:p.Ile29441Arg | |
| NM_133432.3:c.69206T>G (TTN) | NP_597676.3:p.Ile23069Arg | |
| NM_133437.4:c.69407T>G (TTN) | NP_597681.4:p.Ile23136Arg | |
| NR_038271.1:n.446+20567A>C (TTN-AS1) | ||
| NR_038272.1:n.2043+1842A>C (TTN-AS1) | ||
| XM_011511729.1:c.95123T>G (TTN) | XP_011510031.1:p.Ile31708Arg | |
| XM_011511730.1:c.69017T>G (TTN) | XP_011510032.1:p.Ile23006Arg | |
| XM_011511731.1:c.68876T>G (TTN) | XP_011510033.1:p.Ile22959Arg | |
| XM_017004819.1:c.94919T>G (TTN) | XP_016860308.1:p.Ile31640Arg | |
| XM_017004820.1:c.90317T>G (TTN) | XP_016860309.1:p.Ile30106Arg | |
| XM_017004821.1:c.90314T>G (TTN) | XP_016860310.1:p.Ile30105Arg | |
| XM_017004822.1:c.87356T>G (TTN) | XP_016860311.1:p.Ile29119Arg | |
| XM_017004823.1:c.68972T>G (TTN) | XP_016860312.1:p.Ile22991Arg | |
| XM_024453094.1:c.90467T>G (TTN) | XP_024308862.1:p.Ile30156Arg | |
| XM_024453095.1:c.90464T>G (TTN) | XP_024308863.1:p.Ile30155Arg | |
| XM_024453096.1:c.89897T>G (TTN) | XP_024308864.1:p.Ile29966Arg | |
| XM_024453097.1:c.87239T>G (TTN) | XP_024308865.1:p.Ile29080Arg | |
| XM_024453098.1:c.87158T>G (TTN) | XP_024308866.1:p.Ile29053Arg | |
| XM_024453099.1:c.68921T>G (TTN) | XP_024308867.1:p.Ile22974Arg | |
| XM_024453100.1:c.58775T>G (TTN) | XP_024308868.1:p.Ile19592Arg |