Linked Data
ClinVar Variation Id:
229448
dbSNP Id:
rs201302681
ExAC:
2:179476314 C / G
gnomAD v2:
2-179476314-C-G
gnomAD v3:
2-178611587-C-G
gnomAD v4:
2-178611587-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178611587C>G , CM000664.2:g.178611587C>G | GRCh38 |
| NC_000002.11:g.179476314C>G , CM000664.1:g.179476314C>G | GRCh37 |
| NC_000002.10:g.179184559C>G | NCBI36 |
| NG_011618.3:g.224216G>C , LRG_391:g.224216G>C | |
| NG_051363.1:g.93761C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42938G>C (TTN) | ENSP00000343764.6:p.Gly14313Ala | |
| ENST00000342175.11:c.24023G>C (TTN) | ENSP00000340554.6:p.Gly8008Ala | |
| ENST00000359218.10:c.23822G>C (TTN) | ENSP00000352154.5:p.Gly7941Ala | |
| ENST00000342175.10:c.24023G>C (TTN) | ENSP00000340554.6:p.Gly8008Ala | |
| ENST00000342992.10:c.42938G>C (TTN) | ENSP00000343764.6:p.Gly14313Ala | |
| ENST00000359218.9:c.23822G>C (TTN) | ENSP00000352154.5:p.Gly7941Ala | |
| ENST00000460472.6:c.23447G>C (TTN) | ENSP00000434586.1:p.Gly7816Ala | |
| ENST00000589042.5:c.50642G>C (TTN) MANE Select | ENSP00000467141.1:p.Gly16881Ala | |
| ENST00000591111.5:c.45719G>C (TTN) | ENSP00000465570.1:p.Gly15240Ala | |
| ENST00000615779.4:c.45719G>C (TTN) | ENSP00000483597.1:p.Gly15240Ala | |
| NM_001256850.1:c.45719G>C (TTN) | NP_001243779.1:p.Gly15240Ala | |
| NM_001267550.2:c.50642G>C (TTN) MANE Select | NP_001254479.2:p.Gly16881Ala | |
| NM_003319.4:c.23447G>C (TTN) | NP_003310.4:p.Gly7816Ala | |
| NM_133378.4:c.42938G>C (TTN) | NP_596869.4:p.Gly14313Ala | |
| NM_133432.3:c.23822G>C (TTN) | NP_597676.3:p.Gly7941Ala | |
| NM_133437.4:c.24023G>C (TTN) | NP_597681.4:p.Gly8008Ala | |
| NR_038271.1:n.783-2448C>G (TTN-AS1) | ||
| XM_011511729.1:c.49739G>C (TTN) | XP_011510031.1:p.Gly16580Ala | |
| XM_011511730.1:c.23633G>C (TTN) | XP_011510032.1:p.Gly7878Ala | |
| XM_011511731.1:c.23492G>C (TTN) | XP_011510033.1:p.Gly7831Ala | |
| XM_017004819.1:c.49535G>C (TTN) | XP_016860308.1:p.Gly16512Ala | |
| XM_017004820.1:c.44933G>C (TTN) | XP_016860309.1:p.Gly14978Ala | |
| XM_017004821.1:c.44930G>C (TTN) | XP_016860310.1:p.Gly14977Ala | |
| XM_017004822.1:c.41972G>C (TTN) | XP_016860311.1:p.Gly13991Ala | |
| XM_017004823.1:c.23588G>C (TTN) | XP_016860312.1:p.Gly7863Ala | |
| XM_024453094.1:c.45083G>C (TTN) | XP_024308862.1:p.Gly15028Ala | |
| XM_024453095.1:c.45080G>C (TTN) | XP_024308863.1:p.Gly15027Ala | |
| XM_024453096.1:c.44513G>C (TTN) | XP_024308864.1:p.Gly14838Ala | |
| XM_024453097.1:c.41855G>C (TTN) | XP_024308865.1:p.Gly13952Ala | |
| XM_024453098.1:c.41774G>C (TTN) | XP_024308866.1:p.Gly13925Ala | |
| XM_024453099.1:c.23537G>C (TTN) | XP_024308867.1:p.Gly7846Ala | |
| XM_024453100.1:c.13391G>C (TTN) | XP_024308868.1:p.Gly4464Ala |