Linked Data
ClinVar Variation Id:
202701
ClinVar RCV Id:
RCV000184608
RCV000272854
RCV000315949
RCV000330284
RCV000369576
RCV000365027
RCV002433825
RCV003884380
dbSNP Id:
rs370126872
ExAC:
2:179472917 G / C
gnomAD v2:
2-179472917-G-C
gnomAD v3:
2-178608190-G-C
gnomAD v4:
2-178608190-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178608190G>C , CM000664.2:g.178608190G>C | GRCh38 |
| NC_000002.11:g.179472917G>C , CM000664.1:g.179472917G>C | GRCh37 |
| NC_000002.10:g.179181162G>C | NCBI36 |
| NG_011618.3:g.227613C>G , LRG_391:g.227613C>G | |
| NG_051363.1:g.90364G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44989C>G (TTN) | ENSP00000343764.6:p.His14997Asp | |
| ENST00000342175.11:c.26074C>G (TTN) | ENSP00000340554.6:p.His8692Asp | |
| ENST00000359218.10:c.25873C>G (TTN) | ENSP00000352154.5:p.His8625Asp | |
| ENST00000342175.10:c.26074C>G (TTN) | ENSP00000340554.6:p.His8692Asp | |
| ENST00000342992.10:c.44989C>G (TTN) | ENSP00000343764.6:p.His14997Asp | |
| ENST00000359218.9:c.25873C>G (TTN) | ENSP00000352154.5:p.His8625Asp | |
| ENST00000460472.6:c.25498C>G (TTN) | ENSP00000434586.1:p.His8500Asp | |
| ENST00000589042.5:c.52693C>G (TTN) MANE Select | ENSP00000467141.1:p.His17565Asp | |
| ENST00000591111.5:c.47770C>G (TTN) | ENSP00000465570.1:p.His15924Asp | |
| ENST00000615779.4:c.47770C>G (TTN) | ENSP00000483597.1:p.His15924Asp | |
| NM_001256850.1:c.47770C>G (TTN) | NP_001243779.1:p.His15924Asp | |
| NM_001267550.2:c.52693C>G (TTN) MANE Select | NP_001254479.2:p.His17565Asp | |
| NM_003319.4:c.25498C>G (TTN) | NP_003310.4:p.His8500Asp | |
| NM_133378.4:c.44989C>G (TTN) | NP_596869.4:p.His14997Asp | |
| NM_133432.3:c.25873C>G (TTN) | NP_597676.3:p.His8625Asp | |
| NM_133437.4:c.26074C>G (TTN) | NP_597681.4:p.His8692Asp | |
| NR_038271.1:n.706G>C (TTN-AS1) | ||
| XM_011511729.1:c.51790C>G (TTN) | XP_011510031.1:p.His17264Asp | |
| XM_011511730.1:c.25684C>G (TTN) | XP_011510032.1:p.His8562Asp | |
| XM_011511731.1:c.25543C>G (TTN) | XP_011510033.1:p.His8515Asp | |
| XM_017004819.1:c.51586C>G (TTN) | XP_016860308.1:p.His17196Asp | |
| XM_017004820.1:c.46984C>G (TTN) | XP_016860309.1:p.His15662Asp | |
| XM_017004821.1:c.46981C>G (TTN) | XP_016860310.1:p.His15661Asp | |
| XM_017004822.1:c.44023C>G (TTN) | XP_016860311.1:p.His14675Asp | |
| XM_017004823.1:c.25639C>G (TTN) | XP_016860312.1:p.His8547Asp | |
| XM_024453094.1:c.47134C>G (TTN) | XP_024308862.1:p.His15712Asp | |
| XM_024453095.1:c.47131C>G (TTN) | XP_024308863.1:p.His15711Asp | |
| XM_024453096.1:c.46564C>G (TTN) | XP_024308864.1:p.His15522Asp | |
| XM_024453097.1:c.43906C>G (TTN) | XP_024308865.1:p.His14636Asp | |
| XM_024453098.1:c.43825C>G (TTN) | XP_024308866.1:p.His14609Asp | |
| XM_024453099.1:c.25588C>G (TTN) | XP_024308867.1:p.His8530Asp | |
| XM_024453100.1:c.15442C>G (TTN) | XP_024308868.1:p.His5148Asp |