Linked Data
ClinVar Variation Id:
223377
dbSNP Id:
rs869312112
gnomAD v4:
2-178590230-G-A
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178590230G>A , CM000664.2:g.178590230G>A | GRCh38 |
| NC_000002.11:g.179454957G>A , CM000664.1:g.179454957G>A | GRCh37 |
| NC_000002.10:g.179163203G>A | NCBI36 |
| NG_011618.3:g.245573C>T , LRG_391:g.245573C>T | |
| NG_051363.1:g.72404G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.53791C>T (TTN) | ENSP00000343764.6:p.Arg17931Ter | |
| ENST00000342175.11:c.34876C>T (TTN) | ENSP00000340554.6:p.Arg11626Ter | |
| ENST00000359218.10:c.34675C>T (TTN) | ENSP00000352154.5:p.Arg11559Ter | |
| ENST00000342175.10:c.34876C>T (TTN) | ENSP00000340554.6:p.Arg11626Ter | |
| ENST00000342992.10:c.53791C>T (TTN) | ENSP00000343764.6:p.Arg17931Ter | |
| ENST00000359218.9:c.34675C>T (TTN) | ENSP00000352154.5:p.Arg11559Ter | |
| ENST00000460472.6:c.34300C>T (TTN) | ENSP00000434586.1:p.Arg11434Ter | |
| ENST00000589042.5:c.61495C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg20499Ter | |
| ENST00000591111.5:c.56572C>T (TTN) | ENSP00000465570.1:p.Arg18858Ter | |
| ENST00000615779.4:c.56572C>T (TTN) | ENSP00000483597.1:p.Arg18858Ter | |
| NM_001256850.1:c.56572C>T (TTN) | NP_001243779.1:p.Arg18858Ter | |
| NM_001267550.2:c.61495C>T (TTN) MANE Select | NP_001254479.2:p.Arg20499Ter | |
| NM_003319.4:c.34300C>T (TTN) | NP_003310.4:p.Arg11434Ter | |
| NM_133378.4:c.53791C>T (TTN) | NP_596869.4:p.Arg17931Ter | |
| NM_133432.3:c.34675C>T (TTN) | NP_597676.3:p.Arg11559Ter | |
| NM_133437.4:c.34876C>T (TTN) | NP_597681.4:p.Arg11626Ter | |
| NR_038271.1:n.597-7366G>A (TTN-AS1) | ||
| NR_038272.1:n.3189-909G>A (TTN-AS1) | ||
| XM_011511729.1:c.60592C>T (TTN) | XP_011510031.1:p.Arg20198Ter | |
| XM_011511730.1:c.34486C>T (TTN) | XP_011510032.1:p.Arg11496Ter | |
| XM_011511731.1:c.34345C>T (TTN) | XP_011510033.1:p.Arg11449Ter | |
| XM_017004819.1:c.60388C>T (TTN) | XP_016860308.1:p.Arg20130Ter | |
| XM_017004820.1:c.55786C>T (TTN) | XP_016860309.1:p.Arg18596Ter | |
| XM_017004821.1:c.55783C>T (TTN) | XP_016860310.1:p.Arg18595Ter | |
| XM_017004822.1:c.52825C>T (TTN) | XP_016860311.1:p.Arg17609Ter | |
| XM_017004823.1:c.34441C>T (TTN) | XP_016860312.1:p.Arg11481Ter | |
| XM_024453094.1:c.55936C>T (TTN) | XP_024308862.1:p.Arg18646Ter | |
| XM_024453095.1:c.55933C>T (TTN) | XP_024308863.1:p.Arg18645Ter | |
| XM_024453096.1:c.55366C>T (TTN) | XP_024308864.1:p.Arg18456Ter | |
| XM_024453097.1:c.52708C>T (TTN) | XP_024308865.1:p.Arg17570Ter | |
| XM_024453098.1:c.52627C>T (TTN) | XP_024308866.1:p.Arg17543Ter | |
| XM_024453099.1:c.34390C>T (TTN) | XP_024308867.1:p.Arg11464Ter | |
| XM_024453100.1:c.24244C>T (TTN) | XP_024308868.1:p.Arg8082Ter |