Linked Data
dbSNP Id:
rs1362199779
gnomAD v2:
2-179395041-T-C
gnomAD v3:
2-178530314-T-C
gnomAD v4:
2-178530314-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530314T>C , CM000664.2:g.178530314T>C | GRCh38 |
| NC_000002.11:g.179395041T>C , CM000664.1:g.179395041T>C | GRCh37 |
| NC_000002.10:g.179103287T>C | NCBI36 |
| NG_011618.3:g.305489A>G , LRG_391:g.305489A>G | |
| NG_051363.1:g.12488T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98597A>G (TTN) | ENSP00000343764.6:p.Asp32866Gly | |
| ENST00000342175.11:c.79682A>G (TTN) | ENSP00000340554.6:p.Asp26561Gly | |
| ENST00000359218.10:c.79481A>G (TTN) | ENSP00000352154.5:p.Asp26494Gly | |
| ENST00000342175.10:c.79682A>G (TTN) | ENSP00000340554.6:p.Asp26561Gly | |
| ENST00000342992.10:c.98597A>G (TTN) | ENSP00000343764.6:p.Asp32866Gly | |
| ENST00000359218.9:c.79481A>G (TTN) | ENSP00000352154.5:p.Asp26494Gly | |
| ENST00000460472.6:c.79106A>G (TTN) | ENSP00000434586.1:p.Asp26369Gly | |
| ENST00000589042.5:c.106301A>G (TTN) MANE Select | ENSP00000467141.1:p.Asp35434Gly | |
| ENST00000591111.5:c.101378A>G (TTN) | ENSP00000465570.1:p.Asp33793Gly | |
| ENST00000615779.4:c.101378A>G (TTN) | ENSP00000483597.1:p.Asp33793Gly | |
| NM_001256850.1:c.101378A>G (TTN) | NP_001243779.1:p.Asp33793Gly | |
| NM_001267550.2:c.106301A>G (TTN) MANE Select | NP_001254479.2:p.Asp35434Gly | |
| NM_003319.4:c.79106A>G (TTN) | NP_003310.4:p.Asp26369Gly | |
| NM_133378.4:c.98597A>G (TTN) | NP_596869.4:p.Asp32866Gly | |
| NM_133432.3:c.79481A>G (TTN) | NP_597676.3:p.Asp26494Gly | |
| NM_133437.4:c.79682A>G (TTN) | NP_597681.4:p.Asp26561Gly | |
| NR_038271.1:n.446+6678T>C (TTN-AS1) | ||
| NR_038272.1:n.220-5418T>C (TTN-AS1) | ||
| XM_011511729.1:c.105398A>G (TTN) | XP_011510031.1:p.Asp35133Gly | |
| XM_011511730.1:c.79292A>G (TTN) | XP_011510032.1:p.Asp26431Gly | |
| XM_011511731.1:c.79151A>G (TTN) | XP_011510033.1:p.Asp26384Gly | |
| XM_017004819.1:c.105194A>G (TTN) | XP_016860308.1:p.Asp35065Gly | |
| XM_017004820.1:c.100592A>G (TTN) | XP_016860309.1:p.Asp33531Gly | |
| XM_017004821.1:c.100589A>G (TTN) | XP_016860310.1:p.Asp33530Gly | |
| XM_017004822.1:c.97631A>G (TTN) | XP_016860311.1:p.Asp32544Gly | |
| XM_017004823.1:c.79247A>G (TTN) | XP_016860312.1:p.Asp26416Gly | |
| XM_024453094.1:c.100742A>G (TTN) | XP_024308862.1:p.Asp33581Gly | |
| XM_024453095.1:c.100739A>G (TTN) | XP_024308863.1:p.Asp33580Gly | |
| XM_024453096.1:c.100172A>G (TTN) | XP_024308864.1:p.Asp33391Gly | |
| XM_024453097.1:c.97514A>G (TTN) | XP_024308865.1:p.Asp32505Gly | |
| XM_024453098.1:c.97433A>G (TTN) | XP_024308866.1:p.Asp32478Gly | |
| XM_024453099.1:c.79196A>G (TTN) | XP_024308867.1:p.Asp26399Gly | |
| XM_024453100.1:c.69050A>G (TTN) | XP_024308868.1:p.Asp23017Gly |