Linked Data
ClinVar Variation Id:
467300
dbSNP Id:
rs138367112
ExAC:
2:179462427 T / C
gnomAD v2:
2-179462427-T-C
gnomAD v3:
2-178597700-T-C
gnomAD v4:
2-178597700-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178597700T>C , CM000664.2:g.178597700T>C | GRCh38 |
| NC_000002.11:g.179462427T>C , CM000664.1:g.179462427T>C | GRCh37 |
| NC_000002.10:g.179170672T>C | NCBI36 |
| NG_011618.3:g.238103A>G , LRG_391:g.238103A>G | |
| NG_051363.1:g.79874T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49678A>G (TTN) | ENSP00000343764.6:p.Met16560Val | |
| ENST00000342175.11:c.30763A>G (TTN) | ENSP00000340554.6:p.Met10255Val | |
| ENST00000359218.10:c.30562A>G (TTN) | ENSP00000352154.5:p.Met10188Val | |
| ENST00000342175.10:c.30763A>G (TTN) | ENSP00000340554.6:p.Met10255Val | |
| ENST00000342992.10:c.49678A>G (TTN) | ENSP00000343764.6:p.Met16560Val | |
| ENST00000359218.9:c.30562A>G (TTN) | ENSP00000352154.5:p.Met10188Val | |
| ENST00000460472.6:c.30187A>G (TTN) | ENSP00000434586.1:p.Met10063Val | |
| ENST00000589042.5:c.57382A>G (TTN) MANE Select | ENSP00000467141.1:p.Met19128Val | |
| ENST00000591111.5:c.52459A>G (TTN) | ENSP00000465570.1:p.Met17487Val | |
| ENST00000615779.4:c.52459A>G (TTN) | ENSP00000483597.1:p.Met17487Val | |
| NM_001256850.1:c.52459A>G (TTN) | NP_001243779.1:p.Met17487Val | |
| NM_001267550.2:c.57382A>G (TTN) MANE Select | NP_001254479.2:p.Met19128Val | |
| NM_003319.4:c.30187A>G (TTN) | NP_003310.4:p.Met10063Val | |
| NM_133378.4:c.49678A>G (TTN) | NP_596869.4:p.Met16560Val | |
| NM_133432.3:c.30562A>G (TTN) | NP_597676.3:p.Met10188Val | |
| NM_133437.4:c.30763A>G (TTN) | NP_597681.4:p.Met10255Val | |
| NR_038271.1:n.682+19T>C (TTN-AS1) | ||
| NR_038272.1:n.3450+19T>C (TTN-AS1) | ||
| XM_011511729.1:c.56479A>G (TTN) | XP_011510031.1:p.Met18827Val | |
| XM_011511730.1:c.30373A>G (TTN) | XP_011510032.1:p.Met10125Val | |
| XM_011511731.1:c.30232A>G (TTN) | XP_011510033.1:p.Met10078Val | |
| XM_017004819.1:c.56275A>G (TTN) | XP_016860308.1:p.Met18759Val | |
| XM_017004820.1:c.51673A>G (TTN) | XP_016860309.1:p.Met17225Val | |
| XM_017004821.1:c.51670A>G (TTN) | XP_016860310.1:p.Met17224Val | |
| XM_017004822.1:c.48712A>G (TTN) | XP_016860311.1:p.Met16238Val | |
| XM_017004823.1:c.30328A>G (TTN) | XP_016860312.1:p.Met10110Val | |
| XM_024453094.1:c.51823A>G (TTN) | XP_024308862.1:p.Met17275Val | |
| XM_024453095.1:c.51820A>G (TTN) | XP_024308863.1:p.Met17274Val | |
| XM_024453096.1:c.51253A>G (TTN) | XP_024308864.1:p.Met17085Val | |
| XM_024453097.1:c.48595A>G (TTN) | XP_024308865.1:p.Met16199Val | |
| XM_024453098.1:c.48514A>G (TTN) | XP_024308866.1:p.Met16172Val | |
| XM_024453099.1:c.30277A>G (TTN) | XP_024308867.1:p.Met10093Val | |
| XM_024453100.1:c.20131A>G (TTN) | XP_024308868.1:p.Met6711Val |