Linked Data
ClinVar Variation Id:
405075
dbSNP Id:
rs375159973
ExAC:
2:179399128 A / G
gnomAD v2:
2-179399128-A-G
gnomAD v3:
2-178534401-A-G
gnomAD v4:
2-178534401-A-G
PubMed:
PMID:24105469
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534401A>G , CM000664.2:g.178534401A>G | GRCh38 |
| NC_000002.11:g.179399128A>G , CM000664.1:g.179399128A>G | GRCh37 |
| NC_000002.10:g.179107374A>G | NCBI36 |
| NG_011618.3:g.301402T>C , LRG_391:g.301402T>C | |
| NG_051363.1:g.16575A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94510T>C (TTN) | ENSP00000343764.6:p.Trp31504Arg | |
| ENST00000342175.11:c.75595T>C (TTN) | ENSP00000340554.6:p.Trp25199Arg | |
| ENST00000359218.10:c.75394T>C (TTN) | ENSP00000352154.5:p.Trp25132Arg | |
| ENST00000342175.10:c.75595T>C (TTN) | ENSP00000340554.6:p.Trp25199Arg | |
| ENST00000342992.10:c.94510T>C (TTN) | ENSP00000343764.6:p.Trp31504Arg | |
| ENST00000359218.9:c.75394T>C (TTN) | ENSP00000352154.5:p.Trp25132Arg | |
| ENST00000460472.6:c.75019T>C (TTN) | ENSP00000434586.1:p.Trp25007Arg | |
| ENST00000589042.5:c.102214T>C (TTN) MANE Select | ENSP00000467141.1:p.Trp34072Arg | |
| ENST00000591111.5:c.97291T>C (TTN) | ENSP00000465570.1:p.Trp32431Arg | |
| ENST00000615779.4:c.97291T>C (TTN) | ENSP00000483597.1:p.Trp32431Arg | |
| NM_001256850.1:c.97291T>C (TTN) | NP_001243779.1:p.Trp32431Arg | |
| NM_001267550.2:c.102214T>C (TTN) MANE Select | NP_001254479.2:p.Trp34072Arg | |
| NM_003319.4:c.75019T>C (TTN) | NP_003310.4:p.Trp25007Arg | |
| NM_133378.4:c.94510T>C (TTN) | NP_596869.4:p.Trp31504Arg | |
| NM_133432.3:c.75394T>C (TTN) | NP_597676.3:p.Trp25132Arg | |
| NM_133437.4:c.75595T>C (TTN) | NP_597681.4:p.Trp25199Arg | |
| NR_038271.1:n.446+10765A>G (TTN-AS1) | ||
| NR_038272.1:n.220-1331A>G (TTN-AS1) | ||
| XM_011511729.1:c.101311T>C (TTN) | XP_011510031.1:p.Trp33771Arg | |
| XM_011511730.1:c.75205T>C (TTN) | XP_011510032.1:p.Trp25069Arg | |
| XM_011511731.1:c.75064T>C (TTN) | XP_011510033.1:p.Trp25022Arg | |
| XM_017004819.1:c.101107T>C (TTN) | XP_016860308.1:p.Trp33703Arg | |
| XM_017004820.1:c.96505T>C (TTN) | XP_016860309.1:p.Trp32169Arg | |
| XM_017004821.1:c.96502T>C (TTN) | XP_016860310.1:p.Trp32168Arg | |
| XM_017004822.1:c.93544T>C (TTN) | XP_016860311.1:p.Trp31182Arg | |
| XM_017004823.1:c.75160T>C (TTN) | XP_016860312.1:p.Trp25054Arg | |
| XM_024453094.1:c.96655T>C (TTN) | XP_024308862.1:p.Trp32219Arg | |
| XM_024453095.1:c.96652T>C (TTN) | XP_024308863.1:p.Trp32218Arg | |
| XM_024453096.1:c.96085T>C (TTN) | XP_024308864.1:p.Trp32029Arg | |
| XM_024453097.1:c.93427T>C (TTN) | XP_024308865.1:p.Trp31143Arg | |
| XM_024453098.1:c.93346T>C (TTN) | XP_024308866.1:p.Trp31116Arg | |
| XM_024453099.1:c.75109T>C (TTN) | XP_024308867.1:p.Trp25037Arg | |
| XM_024453100.1:c.64963T>C (TTN) | XP_024308868.1:p.Trp21655Arg |