Linked Data
ClinVar Variation Id:
510945
dbSNP Id:
rs574915586
ExAC:
2:179479458 A / G
gnomAD v2:
2-179479458-A-G
gnomAD v4:
2-178614731-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614731A>G , CM000664.2:g.178614731A>G | GRCh38 |
| NC_000002.11:g.179479458A>G , CM000664.1:g.179479458A>G | GRCh37 |
| NC_000002.10:g.179187703A>G | NCBI36 |
| NG_011618.3:g.221072T>C , LRG_391:g.221072T>C | |
| NG_051363.1:g.96905A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41079T>C (TTN) | ENSP00000343764.6:p.Asp13693= | |
| ENST00000342175.11:c.22164T>C (TTN) | ENSP00000340554.6:p.Asp7388= | |
| ENST00000359218.10:c.21963T>C (TTN) | ENSP00000352154.5:p.Asp7321= | |
| ENST00000342175.10:c.22164T>C (TTN) | ENSP00000340554.6:p.Asp7388= | |
| ENST00000342992.10:c.41079T>C (TTN) | ENSP00000343764.6:p.Asp13693= | |
| ENST00000359218.9:c.21963T>C (TTN) | ENSP00000352154.5:p.Asp7321= | |
| ENST00000460472.6:c.21588T>C (TTN) | ENSP00000434586.1:p.Asp7196= | |
| ENST00000589042.5:c.48783T>C (TTN) MANE Select | ENSP00000467141.1:p.Asp16261= | |
| ENST00000591111.5:c.43860T>C (TTN) | ENSP00000465570.1:p.Asp14620= | |
| ENST00000615779.4:c.43860T>C (TTN) | ENSP00000483597.1:p.Asp14620= | |
| NM_001256850.1:c.43860T>C (TTN) | NP_001243779.1:p.Asp14620= | |
| NM_001267550.2:c.48783T>C (TTN) MANE Select | NP_001254479.2:p.Asp16261= | |
| NM_003319.4:c.21588T>C (TTN) | NP_003310.4:p.Asp7196= | |
| NM_133378.4:c.41079T>C (TTN) | NP_596869.4:p.Asp13693= | |
| NM_133432.3:c.21963T>C (TTN) | NP_597676.3:p.Asp7321= | |
| NM_133437.4:c.22164T>C (TTN) | NP_597681.4:p.Asp7388= | |
| NR_038271.1:n.1479A>G (TTN-AS1) | ||
| XM_011511729.1:c.47880T>C (TTN) | XP_011510031.1:p.Asp15960= | |
| XM_011511730.1:c.21774T>C (TTN) | XP_011510032.1:p.Asp7258= | |
| XM_011511731.1:c.21633T>C (TTN) | XP_011510033.1:p.Asp7211= | |
| XM_017004819.1:c.47676T>C (TTN) | XP_016860308.1:p.Asp15892= | |
| XM_017004820.1:c.43074T>C (TTN) | XP_016860309.1:p.Asp14358= | |
| XM_017004821.1:c.43071T>C (TTN) | XP_016860310.1:p.Asp14357= | |
| XM_017004822.1:c.40113T>C (TTN) | XP_016860311.1:p.Asp13371= | |
| XM_017004823.1:c.21729T>C (TTN) | XP_016860312.1:p.Asp7243= | |
| XM_024453094.1:c.43224T>C (TTN) | XP_024308862.1:p.Asp14408= | |
| XM_024453095.1:c.43221T>C (TTN) | XP_024308863.1:p.Asp14407= | |
| XM_024453096.1:c.42654T>C (TTN) | XP_024308864.1:p.Asp14218= | |
| XM_024453097.1:c.39996T>C (TTN) | XP_024308865.1:p.Asp13332= | |
| XM_024453098.1:c.39915T>C (TTN) | XP_024308866.1:p.Asp13305= | |
| XM_024453099.1:c.21678T>C (TTN) | XP_024308867.1:p.Asp7226= | |
| XM_024453100.1:c.11532T>C (TTN) | XP_024308868.1:p.Asp3844= |