Linked Data
ClinVar Variation Id:
179160
dbSNP Id:
rs727504677
ExAC:
2:179399318 T / C
gnomAD v2:
2-179399318-T-C
gnomAD v3:
2-178534591-T-C
gnomAD v4:
2-178534591-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534591T>C , CM000664.2:g.178534591T>C | GRCh38 |
| NC_000002.11:g.179399318T>C , CM000664.1:g.179399318T>C | GRCh37 |
| NC_000002.10:g.179107564T>C | NCBI36 |
| NG_011618.3:g.301212A>G , LRG_391:g.301212A>G | |
| NG_051363.1:g.16765T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94320A>G (TTN) | ENSP00000343764.6:p.Leu31440= | |
| ENST00000342175.11:c.75405A>G (TTN) | ENSP00000340554.6:p.Leu25135= | |
| ENST00000359218.10:c.75204A>G (TTN) | ENSP00000352154.5:p.Leu25068= | |
| ENST00000342175.10:c.75405A>G (TTN) | ENSP00000340554.6:p.Leu25135= | |
| ENST00000342992.10:c.94320A>G (TTN) | ENSP00000343764.6:p.Leu31440= | |
| ENST00000359218.9:c.75204A>G (TTN) | ENSP00000352154.5:p.Leu25068= | |
| ENST00000460472.6:c.74829A>G (TTN) | ENSP00000434586.1:p.Leu24943= | |
| ENST00000589042.5:c.102024A>G (TTN) MANE Select | ENSP00000467141.1:p.Leu34008= | |
| ENST00000591111.5:c.97101A>G (TTN) | ENSP00000465570.1:p.Leu32367= | |
| ENST00000615779.4:c.97101A>G (TTN) | ENSP00000483597.1:p.Leu32367= | |
| NM_001256850.1:c.97101A>G (TTN) | NP_001243779.1:p.Leu32367= | |
| NM_001267550.2:c.102024A>G (TTN) MANE Select | NP_001254479.2:p.Leu34008= | |
| NM_003319.4:c.74829A>G (TTN) | NP_003310.4:p.Leu24943= | |
| NM_133378.4:c.94320A>G (TTN) | NP_596869.4:p.Leu31440= | |
| NM_133432.3:c.75204A>G (TTN) | NP_597676.3:p.Leu25068= | |
| NM_133437.4:c.75405A>G (TTN) | NP_597681.4:p.Leu25135= | |
| NR_038271.1:n.446+10955T>C (TTN-AS1) | ||
| NR_038272.1:n.220-1141T>C (TTN-AS1) | ||
| XM_011511729.1:c.101121A>G (TTN) | XP_011510031.1:p.Leu33707= | |
| XM_011511730.1:c.75015A>G (TTN) | XP_011510032.1:p.Leu25005= | |
| XM_011511731.1:c.74874A>G (TTN) | XP_011510033.1:p.Leu24958= | |
| XM_017004819.1:c.100917A>G (TTN) | XP_016860308.1:p.Leu33639= | |
| XM_017004820.1:c.96315A>G (TTN) | XP_016860309.1:p.Leu32105= | |
| XM_017004821.1:c.96312A>G (TTN) | XP_016860310.1:p.Leu32104= | |
| XM_017004822.1:c.93354A>G (TTN) | XP_016860311.1:p.Leu31118= | |
| XM_017004823.1:c.74970A>G (TTN) | XP_016860312.1:p.Leu24990= | |
| XM_024453094.1:c.96465A>G (TTN) | XP_024308862.1:p.Leu32155= | |
| XM_024453095.1:c.96462A>G (TTN) | XP_024308863.1:p.Leu32154= | |
| XM_024453096.1:c.95895A>G (TTN) | XP_024308864.1:p.Leu31965= | |
| XM_024453097.1:c.93237A>G (TTN) | XP_024308865.1:p.Leu31079= | |
| XM_024453098.1:c.93156A>G (TTN) | XP_024308866.1:p.Leu31052= | |
| XM_024453099.1:c.74919A>G (TTN) | XP_024308867.1:p.Leu24973= | |
| XM_024453100.1:c.64773A>G (TTN) | XP_024308868.1:p.Leu21591= |