Linked Data
ClinVar Variation Id:
202509
dbSNP Id:
rs768431507
ExAC:
2:179469738 G / A
gnomAD v2:
2-179469738-G-A
gnomAD v3:
2-178605011-G-A
gnomAD v4:
2-178605011-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178605011G>A , CM000664.2:g.178605011G>A | GRCh38 |
| NC_000002.11:g.179469738G>A , CM000664.1:g.179469738G>A | GRCh37 |
| NC_000002.10:g.179177983G>A | NCBI36 |
| NG_011618.3:g.230792C>T , LRG_391:g.230792C>T | |
| NG_051363.1:g.87185G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46462C>T (TTN) | ENSP00000343764.6:p.Arg15488Ter | |
| ENST00000342175.11:c.27547C>T (TTN) | ENSP00000340554.6:p.Arg9183Ter | |
| ENST00000359218.10:c.27346C>T (TTN) | ENSP00000352154.5:p.Arg9116Ter | |
| ENST00000342175.10:c.27547C>T (TTN) | ENSP00000340554.6:p.Arg9183Ter | |
| ENST00000342992.10:c.46462C>T (TTN) | ENSP00000343764.6:p.Arg15488Ter | |
| ENST00000359218.9:c.27346C>T (TTN) | ENSP00000352154.5:p.Arg9116Ter | |
| ENST00000460472.6:c.26971C>T (TTN) | ENSP00000434586.1:p.Arg8991Ter | |
| ENST00000589042.5:c.54166C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg18056Ter | |
| ENST00000591111.5:c.49243C>T (TTN) | ENSP00000465570.1:p.Arg16415Ter | |
| ENST00000615779.4:c.49243C>T (TTN) | ENSP00000483597.1:p.Arg16415Ter | |
| NM_001256850.1:c.49243C>T (TTN) | NP_001243779.1:p.Arg16415Ter | |
| NM_001267550.2:c.54166C>T (TTN) MANE Select | NP_001254479.2:p.Arg18056Ter | |
| NM_003319.4:c.26971C>T (TTN) | NP_003310.4:p.Arg8991Ter | |
| NM_133378.4:c.46462C>T (TTN) | NP_596869.4:p.Arg15488Ter | |
| NM_133432.3:c.27346C>T (TTN) | NP_597676.3:p.Arg9116Ter | |
| NM_133437.4:c.27547C>T (TTN) | NP_597681.4:p.Arg9183Ter | |
| NR_038271.1:n.683-3156G>A (TTN-AS1) | ||
| NR_038272.1:n.4198G>A (TTN-AS1) | ||
| XM_011511729.1:c.53263C>T (TTN) | XP_011510031.1:p.Arg17755Ter | |
| XM_011511730.1:c.27157C>T (TTN) | XP_011510032.1:p.Arg9053Ter | |
| XM_011511731.1:c.27016C>T (TTN) | XP_011510033.1:p.Arg9006Ter | |
| XM_017004819.1:c.53059C>T (TTN) | XP_016860308.1:p.Arg17687Ter | |
| XM_017004820.1:c.48457C>T (TTN) | XP_016860309.1:p.Arg16153Ter | |
| XM_017004821.1:c.48454C>T (TTN) | XP_016860310.1:p.Arg16152Ter | |
| XM_017004822.1:c.45496C>T (TTN) | XP_016860311.1:p.Arg15166Ter | |
| XM_017004823.1:c.27112C>T (TTN) | XP_016860312.1:p.Arg9038Ter | |
| XM_024453094.1:c.48607C>T (TTN) | XP_024308862.1:p.Arg16203Ter | |
| XM_024453095.1:c.48604C>T (TTN) | XP_024308863.1:p.Arg16202Ter | |
| XM_024453096.1:c.48037C>T (TTN) | XP_024308864.1:p.Arg16013Ter | |
| XM_024453097.1:c.45379C>T (TTN) | XP_024308865.1:p.Arg15127Ter | |
| XM_024453098.1:c.45298C>T (TTN) | XP_024308866.1:p.Arg15100Ter | |
| XM_024453099.1:c.27061C>T (TTN) | XP_024308867.1:p.Arg9021Ter | |
| XM_024453100.1:c.16915C>T (TTN) | XP_024308868.1:p.Arg5639Ter |