Linked Data
dbSNP Id:
rs776277442
ExAC:
2:179402276 A / G
gnomAD v2:
2-179402276-A-G
gnomAD v4:
2-178537549-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537549A>G , CM000664.2:g.178537549A>G | GRCh38 |
| NC_000002.11:g.179402276A>G , CM000664.1:g.179402276A>G | GRCh37 |
| NC_000002.10:g.179110522A>G | NCBI36 |
| NG_011618.3:g.298254T>C , LRG_391:g.298254T>C | |
| NG_051363.1:g.19723A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91954T>C (TTN) | ENSP00000343764.6:p.Tyr30652His | |
| ENST00000342175.11:c.73039T>C (TTN) | ENSP00000340554.6:p.Tyr24347His | |
| ENST00000359218.10:c.72838T>C (TTN) | ENSP00000352154.5:p.Tyr24280His | |
| ENST00000342175.10:c.73039T>C (TTN) | ENSP00000340554.6:p.Tyr24347His | |
| ENST00000342992.10:c.91954T>C (TTN) | ENSP00000343764.6:p.Tyr30652His | |
| ENST00000359218.9:c.72838T>C (TTN) | ENSP00000352154.5:p.Tyr24280His | |
| ENST00000460472.6:c.72463T>C (TTN) | ENSP00000434586.1:p.Tyr24155His | |
| ENST00000589042.5:c.99658T>C (TTN) MANE Select | ENSP00000467141.1:p.Tyr33220His | |
| ENST00000591111.5:c.94735T>C (TTN) | ENSP00000465570.1:p.Tyr31579His | |
| ENST00000615779.4:c.94735T>C (TTN) | ENSP00000483597.1:p.Tyr31579His | |
| NM_001256850.1:c.94735T>C (TTN) | NP_001243779.1:p.Tyr31579His | |
| NM_001267550.2:c.99658T>C (TTN) MANE Select | NP_001254479.2:p.Tyr33220His | |
| NM_003319.4:c.72463T>C (TTN) | NP_003310.4:p.Tyr24155His | |
| NM_133378.4:c.91954T>C (TTN) | NP_596869.4:p.Tyr30652His | |
| NM_133432.3:c.72838T>C (TTN) | NP_597676.3:p.Tyr24280His | |
| NM_133437.4:c.73039T>C (TTN) | NP_597681.4:p.Tyr24347His | |
| NR_038271.1:n.446+13913A>G (TTN-AS1) | ||
| NR_038272.1:n.505A>G (TTN-AS1) | ||
| XM_011511729.1:c.98755T>C (TTN) | XP_011510031.1:p.Tyr32919His | |
| XM_011511730.1:c.72649T>C (TTN) | XP_011510032.1:p.Tyr24217His | |
| XM_011511731.1:c.72508T>C (TTN) | XP_011510033.1:p.Tyr24170His | |
| XM_017004819.1:c.98551T>C (TTN) | XP_016860308.1:p.Tyr32851His | |
| XM_017004820.1:c.93949T>C (TTN) | XP_016860309.1:p.Tyr31317His | |
| XM_017004821.1:c.93946T>C (TTN) | XP_016860310.1:p.Tyr31316His | |
| XM_017004822.1:c.90988T>C (TTN) | XP_016860311.1:p.Tyr30330His | |
| XM_017004823.1:c.72604T>C (TTN) | XP_016860312.1:p.Tyr24202His | |
| XM_024453094.1:c.94099T>C (TTN) | XP_024308862.1:p.Tyr31367His | |
| XM_024453095.1:c.94096T>C (TTN) | XP_024308863.1:p.Tyr31366His | |
| XM_024453096.1:c.93529T>C (TTN) | XP_024308864.1:p.Tyr31177His | |
| XM_024453097.1:c.90871T>C (TTN) | XP_024308865.1:p.Tyr30291His | |
| XM_024453098.1:c.90790T>C (TTN) | XP_024308866.1:p.Tyr30264His | |
| XM_024453099.1:c.72553T>C (TTN) | XP_024308867.1:p.Tyr24185His | |
| XM_024453100.1:c.62407T>C (TTN) | XP_024308868.1:p.Tyr20803His |