Linked Data
ClinVar Variation Id:
405015
ClinVar RCV Id:
RCV000460291
RCV000513233
RCV001132533
RCV001132532
RCV001132534
RCV001132535
RCV001132536
RCV001280557
RCV002348267
RCV003150216
dbSNP Id:
rs72648221
ExAC:
2:179426219 T / C
gnomAD v2:
2-179426219-T-C
gnomAD v3:
2-178561492-T-C
gnomAD v4:
2-178561492-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178561492T>C , CM000664.2:g.178561492T>C | GRCh38 |
| NC_000002.11:g.179426219T>C , CM000664.1:g.179426219T>C | GRCh37 |
| NC_000002.10:g.179134465T>C | NCBI36 |
| NG_011618.3:g.274311A>G , LRG_391:g.274311A>G | |
| NG_051363.1:g.43666T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.76936A>G (TTN) | ENSP00000343764.6:p.Met25646Val | |
| ENST00000342175.11:c.58021A>G (TTN) | ENSP00000340554.6:p.Met19341Val | |
| ENST00000359218.10:c.57820A>G (TTN) | ENSP00000352154.5:p.Met19274Val | |
| ENST00000342175.10:c.58021A>G (TTN) | ENSP00000340554.6:p.Met19341Val | |
| ENST00000342992.10:c.76936A>G (TTN) | ENSP00000343764.6:p.Met25646Val | |
| ENST00000359218.9:c.57820A>G (TTN) | ENSP00000352154.5:p.Met19274Val | |
| ENST00000460472.6:c.57445A>G (TTN) | ENSP00000434586.1:p.Met19149Val | |
| ENST00000589042.5:c.84640A>G (TTN) MANE Select | ENSP00000467141.1:p.Met28214Val | |
| ENST00000591111.5:c.79717A>G (TTN) | ENSP00000465570.1:p.Met26573Val | |
| ENST00000615779.4:c.79717A>G (TTN) | ENSP00000483597.1:p.Met26573Val | |
| NM_001256850.1:c.79717A>G (TTN) | NP_001243779.1:p.Met26573Val | |
| NM_001267550.2:c.84640A>G (TTN) MANE Select | NP_001254479.2:p.Met28214Val | |
| NM_003319.4:c.57445A>G (TTN) | NP_003310.4:p.Met19149Val | |
| NM_133378.4:c.76936A>G (TTN) | NP_596869.4:p.Met25646Val | |
| NM_133432.3:c.57820A>G (TTN) | NP_597676.3:p.Met19274Val | |
| NM_133437.4:c.58021A>G (TTN) | NP_597681.4:p.Met19341Val | |
| NR_038271.1:n.447-9808T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+19131T>C (TTN-AS1) | ||
| XM_011511729.1:c.83737A>G (TTN) | XP_011510031.1:p.Met27913Val | |
| XM_011511730.1:c.57631A>G (TTN) | XP_011510032.1:p.Met19211Val | |
| XM_011511731.1:c.57490A>G (TTN) | XP_011510033.1:p.Met19164Val | |
| XM_017004819.1:c.83533A>G (TTN) | XP_016860308.1:p.Met27845Val | |
| XM_017004820.1:c.78931A>G (TTN) | XP_016860309.1:p.Met26311Val | |
| XM_017004821.1:c.78928A>G (TTN) | XP_016860310.1:p.Met26310Val | |
| XM_017004822.1:c.75970A>G (TTN) | XP_016860311.1:p.Met25324Val | |
| XM_017004823.1:c.57586A>G (TTN) | XP_016860312.1:p.Met19196Val | |
| XM_024453094.1:c.79081A>G (TTN) | XP_024308862.1:p.Met26361Val | |
| XM_024453095.1:c.79078A>G (TTN) | XP_024308863.1:p.Met26360Val | |
| XM_024453096.1:c.78511A>G (TTN) | XP_024308864.1:p.Met26171Val | |
| XM_024453097.1:c.75853A>G (TTN) | XP_024308865.1:p.Met25285Val | |
| XM_024453098.1:c.75772A>G (TTN) | XP_024308866.1:p.Met25258Val | |
| XM_024453099.1:c.57535A>G (TTN) | XP_024308867.1:p.Met19179Val | |
| XM_024453100.1:c.47389A>G (TTN) | XP_024308868.1:p.Met15797Val |