Linked Data
ClinVar Variation Id:
202735
ClinVar RCV Id:
RCV000184654
RCV000387758
RCV000274852
RCV000330015
RCV000335906
RCV000375191
RCV000765567
RCV003317135
RCV002321742
dbSNP Id:
rs201922910
ExAC:
2:179458723 C / G
gnomAD v2:
2-179458723-C-G
gnomAD v3:
2-178593996-C-G
gnomAD v4:
2-178593996-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178593996C>G , CM000664.2:g.178593996C>G | GRCh38 |
| NC_000002.11:g.179458723C>G , CM000664.1:g.179458723C>G | GRCh37 |
| NC_000002.10:g.179166969C>G | NCBI36 |
| NG_011618.3:g.241807G>C , LRG_391:g.241807G>C | |
| NG_051363.1:g.76170C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.50693G>C (TTN) | ENSP00000343764.6:p.Gly16898Ala | |
| ENST00000342175.11:c.31778G>C (TTN) | ENSP00000340554.6:p.Gly10593Ala | |
| ENST00000359218.10:c.31577G>C (TTN) | ENSP00000352154.5:p.Gly10526Ala | |
| ENST00000342175.10:c.31778G>C (TTN) | ENSP00000340554.6:p.Gly10593Ala | |
| ENST00000342992.10:c.50693G>C (TTN) | ENSP00000343764.6:p.Gly16898Ala | |
| ENST00000359218.9:c.31577G>C (TTN) | ENSP00000352154.5:p.Gly10526Ala | |
| ENST00000460472.6:c.31202G>C (TTN) | ENSP00000434586.1:p.Gly10401Ala | |
| ENST00000589042.5:c.58397G>C (TTN) MANE Select | ENSP00000467141.1:p.Gly19466Ala | |
| ENST00000591111.5:c.53474G>C (TTN) | ENSP00000465570.1:p.Gly17825Ala | |
| ENST00000615779.4:c.53474G>C (TTN) | ENSP00000483597.1:p.Gly17825Ala | |
| NM_001256850.1:c.53474G>C (TTN) | NP_001243779.1:p.Gly17825Ala | |
| NM_001267550.2:c.58397G>C (TTN) MANE Select | NP_001254479.2:p.Gly19466Ala | |
| NM_003319.4:c.31202G>C (TTN) | NP_003310.4:p.Gly10401Ala | |
| NM_133378.4:c.50693G>C (TTN) | NP_596869.4:p.Gly16898Ala | |
| NM_133432.3:c.31577G>C (TTN) | NP_597676.3:p.Gly10526Ala | |
| NM_133437.4:c.31778G>C (TTN) | NP_597681.4:p.Gly10593Ala | |
| NR_038271.1:n.597-3600C>G (TTN-AS1) | ||
| NR_038272.1:n.3364+2682C>G (TTN-AS1) | ||
| XM_011511729.1:c.57494G>C (TTN) | XP_011510031.1:p.Gly19165Ala | |
| XM_011511730.1:c.31388G>C (TTN) | XP_011510032.1:p.Gly10463Ala | |
| XM_011511731.1:c.31247G>C (TTN) | XP_011510033.1:p.Gly10416Ala | |
| XM_017004819.1:c.57290G>C (TTN) | XP_016860308.1:p.Gly19097Ala | |
| XM_017004820.1:c.52688G>C (TTN) | XP_016860309.1:p.Gly17563Ala | |
| XM_017004821.1:c.52685G>C (TTN) | XP_016860310.1:p.Gly17562Ala | |
| XM_017004822.1:c.49727G>C (TTN) | XP_016860311.1:p.Gly16576Ala | |
| XM_017004823.1:c.31343G>C (TTN) | XP_016860312.1:p.Gly10448Ala | |
| XM_024453094.1:c.52838G>C (TTN) | XP_024308862.1:p.Gly17613Ala | |
| XM_024453095.1:c.52835G>C (TTN) | XP_024308863.1:p.Gly17612Ala | |
| XM_024453096.1:c.52268G>C (TTN) | XP_024308864.1:p.Gly17423Ala | |
| XM_024453097.1:c.49610G>C (TTN) | XP_024308865.1:p.Gly16537Ala | |
| XM_024453098.1:c.49529G>C (TTN) | XP_024308866.1:p.Gly16510Ala | |
| XM_024453099.1:c.31292G>C (TTN) | XP_024308867.1:p.Gly10431Ala | |
| XM_024453100.1:c.21146G>C (TTN) | XP_024308868.1:p.Gly7049Ala |