Linked Data
ClinVar Variation Id:
499033
dbSNP Id:
rs747423090
ExAC:
2:179424321 T / A
gnomAD v2:
2-179424321-T-A
gnomAD v3:
2-178559594-T-A
gnomAD v4:
2-178559594-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178559594T>A , CM000664.2:g.178559594T>A | GRCh38 |
| NC_000002.11:g.179424321T>A , CM000664.1:g.179424321T>A | GRCh37 |
| NC_000002.10:g.179132567T>A | NCBI36 |
| NG_011618.3:g.276209A>T , LRG_391:g.276209A>T | |
| NG_051363.1:g.41768T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.78834A>T (TTN) | ENSP00000343764.6:p.Pro26278= | |
| ENST00000342175.11:c.59919A>T (TTN) | ENSP00000340554.6:p.Pro19973= | |
| ENST00000359218.10:c.59718A>T (TTN) | ENSP00000352154.5:p.Pro19906= | |
| ENST00000342175.10:c.59919A>T (TTN) | ENSP00000340554.6:p.Pro19973= | |
| ENST00000342992.10:c.78834A>T (TTN) | ENSP00000343764.6:p.Pro26278= | |
| ENST00000359218.9:c.59718A>T (TTN) | ENSP00000352154.5:p.Pro19906= | |
| ENST00000460472.6:c.59343A>T (TTN) | ENSP00000434586.1:p.Pro19781= | |
| ENST00000589042.5:c.86538A>T (TTN) MANE Select | ENSP00000467141.1:p.Pro28846= | |
| ENST00000591111.5:c.81615A>T (TTN) | ENSP00000465570.1:p.Pro27205= | |
| ENST00000615779.4:c.81615A>T (TTN) | ENSP00000483597.1:p.Pro27205= | |
| NM_001256850.1:c.81615A>T (TTN) | NP_001243779.1:p.Pro27205= | |
| NM_001267550.2:c.86538A>T (TTN) MANE Select | NP_001254479.2:p.Pro28846= | |
| NM_003319.4:c.59343A>T (TTN) | NP_003310.4:p.Pro19781= | |
| NM_133378.4:c.78834A>T (TTN) | NP_596869.4:p.Pro26278= | |
| NM_133432.3:c.59718A>T (TTN) | NP_597676.3:p.Pro19906= | |
| NM_133437.4:c.59919A>T (TTN) | NP_597681.4:p.Pro19973= | |
| NR_038271.1:n.447-11706T>A (TTN-AS1) | ||
| NR_038272.1:n.2043+17233T>A (TTN-AS1) | ||
| XM_011511729.1:c.85635A>T (TTN) | XP_011510031.1:p.Pro28545= | |
| XM_011511730.1:c.59529A>T (TTN) | XP_011510032.1:p.Pro19843= | |
| XM_011511731.1:c.59388A>T (TTN) | XP_011510033.1:p.Pro19796= | |
| XM_017004819.1:c.85431A>T (TTN) | XP_016860308.1:p.Pro28477= | |
| XM_017004820.1:c.80829A>T (TTN) | XP_016860309.1:p.Pro26943= | |
| XM_017004821.1:c.80826A>T (TTN) | XP_016860310.1:p.Pro26942= | |
| XM_017004822.1:c.77868A>T (TTN) | XP_016860311.1:p.Pro25956= | |
| XM_017004823.1:c.59484A>T (TTN) | XP_016860312.1:p.Pro19828= | |
| XM_024453094.1:c.80979A>T (TTN) | XP_024308862.1:p.Pro26993= | |
| XM_024453095.1:c.80976A>T (TTN) | XP_024308863.1:p.Pro26992= | |
| XM_024453096.1:c.80409A>T (TTN) | XP_024308864.1:p.Pro26803= | |
| XM_024453097.1:c.77751A>T (TTN) | XP_024308865.1:p.Pro25917= | |
| XM_024453098.1:c.77670A>T (TTN) | XP_024308866.1:p.Pro25890= | |
| XM_024453099.1:c.59433A>T (TTN) | XP_024308867.1:p.Pro19811= | |
| XM_024453100.1:c.49287A>T (TTN) | XP_024308868.1:p.Pro16429= |