Linked Data
ClinVar Variation Id:
165861
ClinVar RCV Id:
RCV000152233
RCV000723936
RCV001130896
RCV001081781
RCV001130195
RCV001130196
RCV001130897
RCV001130898
RCV002326873
dbSNP Id:
rs368867993
ExAC:
2:179440995 T / C
gnomAD v2:
2-179440995-T-C
gnomAD v3:
2-178576268-T-C
gnomAD v4:
2-178576268-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178576268T>C , CM000664.2:g.178576268T>C | GRCh38 |
| NC_000002.11:g.179440995T>C , CM000664.1:g.179440995T>C | GRCh37 |
| NC_000002.10:g.179149241T>C | NCBI36 |
| NG_011618.3:g.259535A>G , LRG_391:g.259535A>G | |
| NG_051363.1:g.58442T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62160A>G (TTN) | ENSP00000343764.6:p.Ile20720Met | |
| ENST00000342175.11:c.43245A>G (TTN) | ENSP00000340554.6:p.Ile14415Met | |
| ENST00000359218.10:c.43044A>G (TTN) | ENSP00000352154.5:p.Ile14348Met | |
| ENST00000342175.10:c.43245A>G (TTN) | ENSP00000340554.6:p.Ile14415Met | |
| ENST00000342992.10:c.62160A>G (TTN) | ENSP00000343764.6:p.Ile20720Met | |
| ENST00000359218.9:c.43044A>G (TTN) | ENSP00000352154.5:p.Ile14348Met | |
| ENST00000460472.6:c.42669A>G (TTN) | ENSP00000434586.1:p.Ile14223Met | |
| ENST00000589042.5:c.69864A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile23288Met | |
| ENST00000591111.5:c.64941A>G (TTN) | ENSP00000465570.1:p.Ile21647Met | |
| ENST00000615779.4:c.64941A>G (TTN) | ENSP00000483597.1:p.Ile21647Met | |
| NM_001256850.1:c.64941A>G (TTN) | NP_001243779.1:p.Ile21647Met | |
| NM_001267550.2:c.69864A>G (TTN) MANE Select | NP_001254479.2:p.Ile23288Met | |
| NM_003319.4:c.42669A>G (TTN) | NP_003310.4:p.Ile14223Met | |
| NM_133378.4:c.62160A>G (TTN) | NP_596869.4:p.Ile20720Met | |
| NM_133432.3:c.43044A>G (TTN) | NP_597676.3:p.Ile14348Met | |
| NM_133437.4:c.43245A>G (TTN) | NP_597681.4:p.Ile14415Met | |
| NR_038271.1:n.596+4819T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-6304T>C (TTN-AS1) | ||
| XM_011511729.1:c.68961A>G (TTN) | XP_011510031.1:p.Ile22987Met | |
| XM_011511730.1:c.42855A>G (TTN) | XP_011510032.1:p.Ile14285Met | |
| XM_011511731.1:c.42714A>G (TTN) | XP_011510033.1:p.Ile14238Met | |
| XM_017004819.1:c.68757A>G (TTN) | XP_016860308.1:p.Ile22919Met | |
| XM_017004820.1:c.64155A>G (TTN) | XP_016860309.1:p.Ile21385Met | |
| XM_017004821.1:c.64152A>G (TTN) | XP_016860310.1:p.Ile21384Met | |
| XM_017004822.1:c.61194A>G (TTN) | XP_016860311.1:p.Ile20398Met | |
| XM_017004823.1:c.42810A>G (TTN) | XP_016860312.1:p.Ile14270Met | |
| XM_024453094.1:c.64305A>G (TTN) | XP_024308862.1:p.Ile21435Met | |
| XM_024453095.1:c.64302A>G (TTN) | XP_024308863.1:p.Ile21434Met | |
| XM_024453096.1:c.63735A>G (TTN) | XP_024308864.1:p.Ile21245Met | |
| XM_024453097.1:c.61077A>G (TTN) | XP_024308865.1:p.Ile20359Met | |
| XM_024453098.1:c.60996A>G (TTN) | XP_024308866.1:p.Ile20332Met | |
| XM_024453099.1:c.42759A>G (TTN) | XP_024308867.1:p.Ile14253Met | |
| XM_024453100.1:c.32613A>G (TTN) | XP_024308868.1:p.Ile10871Met |