Linked Data
ClinVar Variation Id:
202702
ClinVar RCV Id:
RCV000308035
RCV000339816
RCV000394227
RCV000474495
RCV000361668
RCV000394317
RCV001262302
RCV001798650
RCV001532426
RCV003114341
RCV002426896
dbSNP Id:
rs377571654
ExAC:
2:179472908 T / C
gnomAD v2:
2-179472908-T-C
gnomAD v3:
2-178608181-T-C
gnomAD v4:
2-178608181-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178608181T>C , CM000664.2:g.178608181T>C | GRCh38 |
| NC_000002.11:g.179472908T>C , CM000664.1:g.179472908T>C | GRCh37 |
| NC_000002.10:g.179181153T>C | NCBI36 |
| NG_011618.3:g.227622A>G , LRG_391:g.227622A>G | |
| NG_051363.1:g.90355T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44998A>G (TTN) | ENSP00000343764.6:p.Ile15000Val | |
| ENST00000342175.11:c.26083A>G (TTN) | ENSP00000340554.6:p.Ile8695Val | |
| ENST00000359218.10:c.25882A>G (TTN) | ENSP00000352154.5:p.Ile8628Val | |
| ENST00000342175.10:c.26083A>G (TTN) | ENSP00000340554.6:p.Ile8695Val | |
| ENST00000342992.10:c.44998A>G (TTN) | ENSP00000343764.6:p.Ile15000Val | |
| ENST00000359218.9:c.25882A>G (TTN) | ENSP00000352154.5:p.Ile8628Val | |
| ENST00000460472.6:c.25507A>G (TTN) | ENSP00000434586.1:p.Ile8503Val | |
| ENST00000589042.5:c.52702A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile17568Val | |
| ENST00000591111.5:c.47779A>G (TTN) | ENSP00000465570.1:p.Ile15927Val | |
| ENST00000615779.4:c.47779A>G (TTN) | ENSP00000483597.1:p.Ile15927Val | |
| NM_001256850.1:c.47779A>G (TTN) | NP_001243779.1:p.Ile15927Val | |
| NM_001267550.2:c.52702A>G (TTN) MANE Select | NP_001254479.2:p.Ile17568Val | |
| NM_003319.4:c.25507A>G (TTN) | NP_003310.4:p.Ile8503Val | |
| NM_133378.4:c.44998A>G (TTN) | NP_596869.4:p.Ile15000Val | |
| NM_133432.3:c.25882A>G (TTN) | NP_597676.3:p.Ile8628Val | |
| NM_133437.4:c.26083A>G (TTN) | NP_597681.4:p.Ile8695Val | |
| NR_038271.1:n.697T>C (TTN-AS1) | ||
| XM_011511729.1:c.51799A>G (TTN) | XP_011510031.1:p.Ile17267Val | |
| XM_011511730.1:c.25693A>G (TTN) | XP_011510032.1:p.Ile8565Val | |
| XM_011511731.1:c.25552A>G (TTN) | XP_011510033.1:p.Ile8518Val | |
| XM_017004819.1:c.51595A>G (TTN) | XP_016860308.1:p.Ile17199Val | |
| XM_017004820.1:c.46993A>G (TTN) | XP_016860309.1:p.Ile15665Val | |
| XM_017004821.1:c.46990A>G (TTN) | XP_016860310.1:p.Ile15664Val | |
| XM_017004822.1:c.44032A>G (TTN) | XP_016860311.1:p.Ile14678Val | |
| XM_017004823.1:c.25648A>G (TTN) | XP_016860312.1:p.Ile8550Val | |
| XM_024453094.1:c.47143A>G (TTN) | XP_024308862.1:p.Ile15715Val | |
| XM_024453095.1:c.47140A>G (TTN) | XP_024308863.1:p.Ile15714Val | |
| XM_024453096.1:c.46573A>G (TTN) | XP_024308864.1:p.Ile15525Val | |
| XM_024453097.1:c.43915A>G (TTN) | XP_024308865.1:p.Ile14639Val | |
| XM_024453098.1:c.43834A>G (TTN) | XP_024308866.1:p.Ile14612Val | |
| XM_024453099.1:c.25597A>G (TTN) | XP_024308867.1:p.Ile8533Val | |
| XM_024453100.1:c.15451A>G (TTN) | XP_024308868.1:p.Ile5151Val |