Linked Data
ClinVar Variation Id:
413042
ClinVar RCV Id:
RCV000463302
RCV001129083
RCV001129084
RCV001129085
RCV001129086
RCV001129082
RCV002341067
dbSNP Id:
rs1060503924
gnomAD v4:
2-178571624-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178571624A>G , CM000664.2:g.178571624A>G | GRCh38 |
| NC_000002.11:g.179436351A>G , CM000664.1:g.179436351A>G | GRCh37 |
| NC_000002.10:g.179144597A>G | NCBI36 |
| NG_011618.3:g.264179T>C , LRG_391:g.264179T>C | |
| NG_051363.1:g.53798A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66804T>C (TTN) | ENSP00000343764.6:p.Asp22268= | |
| ENST00000342175.11:c.47889T>C (TTN) | ENSP00000340554.6:p.Asp15963= | |
| ENST00000359218.10:c.47688T>C (TTN) | ENSP00000352154.5:p.Asp15896= | |
| ENST00000342175.10:c.47889T>C (TTN) | ENSP00000340554.6:p.Asp15963= | |
| ENST00000342992.10:c.66804T>C (TTN) | ENSP00000343764.6:p.Asp22268= | |
| ENST00000359218.9:c.47688T>C (TTN) | ENSP00000352154.5:p.Asp15896= | |
| ENST00000460472.6:c.47313T>C (TTN) | ENSP00000434586.1:p.Asp15771= | |
| ENST00000589042.5:c.74508T>C (TTN) MANE Select | ENSP00000467141.1:p.Asp24836= | |
| ENST00000591111.5:c.69585T>C (TTN) | ENSP00000465570.1:p.Asp23195= | |
| ENST00000615779.4:c.69585T>C (TTN) | ENSP00000483597.1:p.Asp23195= | |
| NM_001256850.1:c.69585T>C (TTN) | NP_001243779.1:p.Asp23195= | |
| NM_001267550.2:c.74508T>C (TTN) MANE Select | NP_001254479.2:p.Asp24836= | |
| NM_003319.4:c.47313T>C (TTN) | NP_003310.4:p.Asp15771= | |
| NM_133378.4:c.66804T>C (TTN) | NP_596869.4:p.Asp22268= | |
| NM_133432.3:c.47688T>C (TTN) | NP_597676.3:p.Asp15896= | |
| NM_133437.4:c.47889T>C (TTN) | NP_597681.4:p.Asp15963= | |
| NR_038271.1:n.596+175A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-10948A>G (TTN-AS1) | ||
| XM_011511729.1:c.73605T>C (TTN) | XP_011510031.1:p.Asp24535= | |
| XM_011511730.1:c.47499T>C (TTN) | XP_011510032.1:p.Asp15833= | |
| XM_011511731.1:c.47358T>C (TTN) | XP_011510033.1:p.Asp15786= | |
| XM_017004819.1:c.73401T>C (TTN) | XP_016860308.1:p.Asp24467= | |
| XM_017004820.1:c.68799T>C (TTN) | XP_016860309.1:p.Asp22933= | |
| XM_017004821.1:c.68796T>C (TTN) | XP_016860310.1:p.Asp22932= | |
| XM_017004822.1:c.65838T>C (TTN) | XP_016860311.1:p.Asp21946= | |
| XM_017004823.1:c.47454T>C (TTN) | XP_016860312.1:p.Asp15818= | |
| XM_024453094.1:c.68949T>C (TTN) | XP_024308862.1:p.Asp22983= | |
| XM_024453095.1:c.68946T>C (TTN) | XP_024308863.1:p.Asp22982= | |
| XM_024453096.1:c.68379T>C (TTN) | XP_024308864.1:p.Asp22793= | |
| XM_024453097.1:c.65721T>C (TTN) | XP_024308865.1:p.Asp21907= | |
| XM_024453098.1:c.65640T>C (TTN) | XP_024308866.1:p.Asp21880= | |
| XM_024453099.1:c.47403T>C (TTN) | XP_024308867.1:p.Asp15801= | |
| XM_024453100.1:c.37257T>C (TTN) | XP_024308868.1:p.Asp12419= |