Linked Data
ClinVar Variation Id:
47322
ClinVar RCV Id:
RCV000040592
RCV000247787
RCV000301041
RCV000314072
RCV000336155
RCV000458685
RCV000367543
RCV000396511
RCV000769945
RCV001083733
RCV002223143
dbSNP Id:
rs55762754
ExAC:
2:179437034 C / G
gnomAD v2:
2-179437034-C-G
gnomAD v3:
2-178572307-C-G
gnomAD v4:
2-178572307-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178572307C>G , CM000664.2:g.178572307C>G | GRCh38 |
| NC_000002.11:g.179437034C>G , CM000664.1:g.179437034C>G | GRCh37 |
| NC_000002.10:g.179145280C>G | NCBI36 |
| NG_011618.3:g.263496G>C , LRG_391:g.263496G>C | |
| NG_051363.1:g.54481C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66121G>C (TTN) | ENSP00000343764.6:p.Glu22041Gln | |
| ENST00000342175.11:c.47206G>C (TTN) | ENSP00000340554.6:p.Glu15736Gln | |
| ENST00000359218.10:c.47005G>C (TTN) | ENSP00000352154.5:p.Glu15669Gln | |
| ENST00000342175.10:c.47206G>C (TTN) | ENSP00000340554.6:p.Glu15736Gln | |
| ENST00000342992.10:c.66121G>C (TTN) | ENSP00000343764.6:p.Glu22041Gln | |
| ENST00000359218.9:c.47005G>C (TTN) | ENSP00000352154.5:p.Glu15669Gln | |
| ENST00000460472.6:c.46630G>C (TTN) | ENSP00000434586.1:p.Glu15544Gln | |
| ENST00000589042.5:c.73825G>C (TTN) MANE Select | ENSP00000467141.1:p.Glu24609Gln | |
| ENST00000591111.5:c.68902G>C (TTN) | ENSP00000465570.1:p.Glu22968Gln | |
| ENST00000615779.4:c.68902G>C (TTN) | ENSP00000483597.1:p.Glu22968Gln | |
| NM_001256850.1:c.68902G>C (TTN) | NP_001243779.1:p.Glu22968Gln | |
| NM_001267550.2:c.73825G>C (TTN) MANE Select | NP_001254479.2:p.Glu24609Gln | |
| NM_003319.4:c.46630G>C (TTN) | NP_003310.4:p.Glu15544Gln | |
| NM_133378.4:c.66121G>C (TTN) | NP_596869.4:p.Glu22041Gln | |
| NM_133432.3:c.47005G>C (TTN) | NP_597676.3:p.Glu15669Gln | |
| NM_133437.4:c.47206G>C (TTN) | NP_597681.4:p.Glu15736Gln | |
| NR_038271.1:n.596+858C>G (TTN-AS1) | ||
| NR_038272.1:n.2044-10265C>G (TTN-AS1) | ||
| XM_011511729.1:c.72922G>C (TTN) | XP_011510031.1:p.Glu24308Gln | |
| XM_011511730.1:c.46816G>C (TTN) | XP_011510032.1:p.Glu15606Gln | |
| XM_011511731.1:c.46675G>C (TTN) | XP_011510033.1:p.Glu15559Gln | |
| XM_017004819.1:c.72718G>C (TTN) | XP_016860308.1:p.Glu24240Gln | |
| XM_017004820.1:c.68116G>C (TTN) | XP_016860309.1:p.Glu22706Gln | |
| XM_017004821.1:c.68113G>C (TTN) | XP_016860310.1:p.Glu22705Gln | |
| XM_017004822.1:c.65155G>C (TTN) | XP_016860311.1:p.Glu21719Gln | |
| XM_017004823.1:c.46771G>C (TTN) | XP_016860312.1:p.Glu15591Gln | |
| XM_024453094.1:c.68266G>C (TTN) | XP_024308862.1:p.Glu22756Gln | |
| XM_024453095.1:c.68263G>C (TTN) | XP_024308863.1:p.Glu22755Gln | |
| XM_024453096.1:c.67696G>C (TTN) | XP_024308864.1:p.Glu22566Gln | |
| XM_024453097.1:c.65038G>C (TTN) | XP_024308865.1:p.Glu21680Gln | |
| XM_024453098.1:c.64957G>C (TTN) | XP_024308866.1:p.Glu21653Gln | |
| XM_024453099.1:c.46720G>C (TTN) | XP_024308867.1:p.Glu15574Gln | |
| XM_024453100.1:c.36574G>C (TTN) | XP_024308868.1:p.Glu12192Gln |