Linked Data
ClinVar Variation Id:
203043
ClinVar RCV Id:
RCV000185056
RCV000303989
RCV000298988
RCV000335265
RCV000392376
RCV000358712
RCV001704935
dbSNP Id:
rs758494581
ExAC:
2:179403703 A / G
gnomAD v2:
2-179403703-A-G
gnomAD v3:
2-178538976-A-G
gnomAD v4:
2-178538976-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178538976A>G , CM000664.2:g.178538976A>G | GRCh38 |
| NC_000002.11:g.179403703A>G , CM000664.1:g.179403703A>G | GRCh37 |
| NC_000002.10:g.179111949A>G | NCBI36 |
| NG_011618.3:g.296827T>C , LRG_391:g.296827T>C | |
| NG_051363.1:g.21150A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91255T>C (TTN) | ENSP00000343764.6:p.Ser30419Pro | |
| ENST00000342175.11:c.72340T>C (TTN) | ENSP00000340554.6:p.Ser24114Pro | |
| ENST00000359218.10:c.72139T>C (TTN) | ENSP00000352154.5:p.Ser24047Pro | |
| ENST00000342175.10:c.72340T>C (TTN) | ENSP00000340554.6:p.Ser24114Pro | |
| ENST00000342992.10:c.91255T>C (TTN) | ENSP00000343764.6:p.Ser30419Pro | |
| ENST00000359218.9:c.72139T>C (TTN) | ENSP00000352154.5:p.Ser24047Pro | |
| ENST00000460472.6:c.71764T>C (TTN) | ENSP00000434586.1:p.Ser23922Pro | |
| ENST00000589042.5:c.98959T>C (TTN) MANE Select | ENSP00000467141.1:p.Ser32987Pro | |
| ENST00000591111.5:c.94036T>C (TTN) | ENSP00000465570.1:p.Ser31346Pro | |
| ENST00000615779.4:c.94036T>C (TTN) | ENSP00000483597.1:p.Ser31346Pro | |
| NM_001256850.1:c.94036T>C (TTN) | NP_001243779.1:p.Ser31346Pro | |
| NM_001267550.2:c.98959T>C (TTN) MANE Select | NP_001254479.2:p.Ser32987Pro | |
| NM_003319.4:c.71764T>C (TTN) | NP_003310.4:p.Ser23922Pro | |
| NM_133378.4:c.91255T>C (TTN) | NP_596869.4:p.Ser30419Pro | |
| NM_133432.3:c.72139T>C (TTN) | NP_597676.3:p.Ser24047Pro | |
| NM_133437.4:c.72340T>C (TTN) | NP_597681.4:p.Ser24114Pro | |
| NR_038271.1:n.446+15340A>G (TTN-AS1) | ||
| NR_038272.1:n.926A>G (TTN-AS1) | ||
| XM_011511729.1:c.98056T>C (TTN) | XP_011510031.1:p.Ser32686Pro | |
| XM_011511730.1:c.71950T>C (TTN) | XP_011510032.1:p.Ser23984Pro | |
| XM_011511731.1:c.71809T>C (TTN) | XP_011510033.1:p.Ser23937Pro | |
| XM_017004819.1:c.97852T>C (TTN) | XP_016860308.1:p.Ser32618Pro | |
| XM_017004820.1:c.93250T>C (TTN) | XP_016860309.1:p.Ser31084Pro | |
| XM_017004821.1:c.93247T>C (TTN) | XP_016860310.1:p.Ser31083Pro | |
| XM_017004822.1:c.90289T>C (TTN) | XP_016860311.1:p.Ser30097Pro | |
| XM_017004823.1:c.71905T>C (TTN) | XP_016860312.1:p.Ser23969Pro | |
| XM_024453094.1:c.93400T>C (TTN) | XP_024308862.1:p.Ser31134Pro | |
| XM_024453095.1:c.93397T>C (TTN) | XP_024308863.1:p.Ser31133Pro | |
| XM_024453096.1:c.92830T>C (TTN) | XP_024308864.1:p.Ser30944Pro | |
| XM_024453097.1:c.90172T>C (TTN) | XP_024308865.1:p.Ser30058Pro | |
| XM_024453098.1:c.90091T>C (TTN) | XP_024308866.1:p.Ser30031Pro | |
| XM_024453099.1:c.71854T>C (TTN) | XP_024308867.1:p.Ser23952Pro | |
| XM_024453100.1:c.61708T>C (TTN) | XP_024308868.1:p.Ser20570Pro |