Linked Data
ClinVar Variation Id:
47520
ClinVar RCV Id:
RCV000040789
RCV000082448
RCV000247505
RCV000277773
RCV000290790
RCV000348133
RCV000387528
RCV000330728
RCV000380748
RCV000852789
RCV001083918
RCV001132527
RCV001132528
RCV001798198
RCV002227930
RCV003993770
RCV004534939
dbSNP Id:
rs72648247
ExAC:
2:179414177 G / A
gnomAD v2:
2-179414177-G-A
gnomAD v3:
2-178549450-G-A
gnomAD v4:
2-178549450-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549450G>A , CM000664.2:g.178549450G>A | GRCh38 |
| NC_000002.11:g.179414177G>A , CM000664.1:g.179414177G>A | GRCh37 |
| NC_000002.10:g.179122423G>A | NCBI36 |
| NG_011618.3:g.286353C>T , LRG_391:g.286353C>T | |
| NG_051363.1:g.31624G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84472C>T (TTN) | ENSP00000343764.6:p.Pro28158Ser | |
| ENST00000342175.11:c.65557C>T (TTN) | ENSP00000340554.6:p.Pro21853Ser | |
| ENST00000359218.10:c.65356C>T (TTN) | ENSP00000352154.5:p.Pro21786Ser | |
| ENST00000342175.10:c.65557C>T (TTN) | ENSP00000340554.6:p.Pro21853Ser | |
| ENST00000342992.10:c.84472C>T (TTN) | ENSP00000343764.6:p.Pro28158Ser | |
| ENST00000359218.9:c.65356C>T (TTN) | ENSP00000352154.5:p.Pro21786Ser | |
| ENST00000460472.6:c.64981C>T (TTN) | ENSP00000434586.1:p.Pro21661Ser | |
| ENST00000589042.5:c.92176C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro30726Ser | |
| ENST00000591111.5:c.87253C>T (TTN) | ENSP00000465570.1:p.Pro29085Ser | |
| ENST00000615779.4:c.87253C>T (TTN) | ENSP00000483597.1:p.Pro29085Ser | |
| NM_001256850.1:c.87253C>T (TTN) | NP_001243779.1:p.Pro29085Ser | |
| NM_001267550.2:c.92176C>T (TTN) MANE Select | NP_001254479.2:p.Pro30726Ser | |
| NM_003319.4:c.64981C>T (TTN) | NP_003310.4:p.Pro21661Ser | |
| NM_133378.4:c.84472C>T (TTN) | NP_596869.4:p.Pro28158Ser | |
| NM_133432.3:c.65356C>T (TTN) | NP_597676.3:p.Pro21786Ser | |
| NM_133437.4:c.65557C>T (TTN) | NP_597681.4:p.Pro21853Ser | |
| NR_038271.1:n.447-21850G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+7089G>A (TTN-AS1) | ||
| XM_011511729.1:c.91273C>T (TTN) | XP_011510031.1:p.Pro30425Ser | |
| XM_011511730.1:c.65167C>T (TTN) | XP_011510032.1:p.Pro21723Ser | |
| XM_011511731.1:c.65026C>T (TTN) | XP_011510033.1:p.Pro21676Ser | |
| XM_017004819.1:c.91069C>T (TTN) | XP_016860308.1:p.Pro30357Ser | |
| XM_017004820.1:c.86467C>T (TTN) | XP_016860309.1:p.Pro28823Ser | |
| XM_017004821.1:c.86464C>T (TTN) | XP_016860310.1:p.Pro28822Ser | |
| XM_017004822.1:c.83506C>T (TTN) | XP_016860311.1:p.Pro27836Ser | |
| XM_017004823.1:c.65122C>T (TTN) | XP_016860312.1:p.Pro21708Ser | |
| XM_024453094.1:c.86617C>T (TTN) | XP_024308862.1:p.Pro28873Ser | |
| XM_024453095.1:c.86614C>T (TTN) | XP_024308863.1:p.Pro28872Ser | |
| XM_024453096.1:c.86047C>T (TTN) | XP_024308864.1:p.Pro28683Ser | |
| XM_024453097.1:c.83389C>T (TTN) | XP_024308865.1:p.Pro27797Ser | |
| XM_024453098.1:c.83308C>T (TTN) | XP_024308866.1:p.Pro27770Ser | |
| XM_024453099.1:c.65071C>T (TTN) | XP_024308867.1:p.Pro21691Ser | |
| XM_024453100.1:c.54925C>T (TTN) | XP_024308868.1:p.Pro18309Ser |