Linked Data
ClinVar Variation Id:
229442
dbSNP Id:
rs876658063
gnomAD v2:
2-179480371-C-A
gnomAD v4:
2-178615644-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178615644C>A , CM000664.2:g.178615644C>A | GRCh38 |
| NC_000002.11:g.179480371C>A , CM000664.1:g.179480371C>A | GRCh37 |
| NC_000002.10:g.179188616C>A | NCBI36 |
| NG_011618.3:g.220159G>T , LRG_391:g.220159G>T | |
| NG_051363.1:g.97818C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40753G>T (TTN) | ENSP00000343764.6:p.Ala13585Ser | |
| ENST00000342175.11:c.21838G>T (TTN) | ENSP00000340554.6:p.Ala7280Ser | |
| ENST00000359218.10:c.21637G>T (TTN) | ENSP00000352154.5:p.Ala7213Ser | |
| ENST00000342175.10:c.21838G>T (TTN) | ENSP00000340554.6:p.Ala7280Ser | |
| ENST00000342992.10:c.40753G>T (TTN) | ENSP00000343764.6:p.Ala13585Ser | |
| ENST00000359218.9:c.21637G>T (TTN) | ENSP00000352154.5:p.Ala7213Ser | |
| ENST00000460472.6:c.21262G>T (TTN) | ENSP00000434586.1:p.Ala7088Ser | |
| ENST00000589042.5:c.48457G>T (TTN) MANE Select | ENSP00000467141.1:p.Ala16153Ser | |
| ENST00000591111.5:c.43534G>T (TTN) | ENSP00000465570.1:p.Ala14512Ser | |
| ENST00000615779.4:c.43534G>T (TTN) | ENSP00000483597.1:p.Ala14512Ser | |
| NM_001256850.1:c.43534G>T (TTN) | NP_001243779.1:p.Ala14512Ser | |
| NM_001267550.2:c.48457G>T (TTN) MANE Select | NP_001254479.2:p.Ala16153Ser | |
| NM_003319.4:c.21262G>T (TTN) | NP_003310.4:p.Ala7088Ser | |
| NM_133378.4:c.40753G>T (TTN) | NP_596869.4:p.Ala13585Ser | |
| NM_133432.3:c.21637G>T (TTN) | NP_597676.3:p.Ala7213Ser | |
| NM_133437.4:c.21838G>T (TTN) | NP_597681.4:p.Ala7280Ser | |
| NR_038271.1:n.1604+270C>A (TTN-AS1) | ||
| XM_011511729.1:c.47554G>T (TTN) | XP_011510031.1:p.Ala15852Ser | |
| XM_011511730.1:c.21448G>T (TTN) | XP_011510032.1:p.Ala7150Ser | |
| XM_011511731.1:c.21307G>T (TTN) | XP_011510033.1:p.Ala7103Ser | |
| XM_017004819.1:c.47350G>T (TTN) | XP_016860308.1:p.Ala15784Ser | |
| XM_017004820.1:c.42748G>T (TTN) | XP_016860309.1:p.Ala14250Ser | |
| XM_017004821.1:c.42745G>T (TTN) | XP_016860310.1:p.Ala14249Ser | |
| XM_017004822.1:c.39787G>T (TTN) | XP_016860311.1:p.Ala13263Ser | |
| XM_017004823.1:c.21403G>T (TTN) | XP_016860312.1:p.Ala7135Ser | |
| XM_024453094.1:c.42898G>T (TTN) | XP_024308862.1:p.Ala14300Ser | |
| XM_024453095.1:c.42895G>T (TTN) | XP_024308863.1:p.Ala14299Ser | |
| XM_024453096.1:c.42328G>T (TTN) | XP_024308864.1:p.Ala14110Ser | |
| XM_024453097.1:c.39670G>T (TTN) | XP_024308865.1:p.Ala13224Ser | |
| XM_024453098.1:c.39589G>T (TTN) | XP_024308866.1:p.Ala13197Ser | |
| XM_024453099.1:c.21352G>T (TTN) | XP_024308867.1:p.Ala7118Ser | |
| XM_024453100.1:c.11206G>T (TTN) | XP_024308868.1:p.Ala3736Ser |