Linked Data
ClinVar Variation Id:
290472
dbSNP Id:
rs545185154
ExAC:
2:179458913 C / G
gnomAD v2:
2-179458913-C-G
gnomAD v3:
2-178594186-C-G
gnomAD v4:
2-178594186-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178594186C>G , CM000664.2:g.178594186C>G | GRCh38 |
| NC_000002.11:g.179458913C>G , CM000664.1:g.179458913C>G | GRCh37 |
| NC_000002.10:g.179167159C>G | NCBI36 |
| NG_011618.3:g.241617G>C , LRG_391:g.241617G>C | |
| NG_051363.1:g.76360C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.50503G>C (TTN) | ENSP00000343764.6:p.Ala16835Pro | |
| ENST00000342175.11:c.31588G>C (TTN) | ENSP00000340554.6:p.Ala10530Pro | |
| ENST00000359218.10:c.31387G>C (TTN) | ENSP00000352154.5:p.Ala10463Pro | |
| ENST00000342175.10:c.31588G>C (TTN) | ENSP00000340554.6:p.Ala10530Pro | |
| ENST00000342992.10:c.50503G>C (TTN) | ENSP00000343764.6:p.Ala16835Pro | |
| ENST00000359218.9:c.31387G>C (TTN) | ENSP00000352154.5:p.Ala10463Pro | |
| ENST00000460472.6:c.31012G>C (TTN) | ENSP00000434586.1:p.Ala10338Pro | |
| ENST00000589042.5:c.58207G>C (TTN) MANE Select | ENSP00000467141.1:p.Ala19403Pro | |
| ENST00000591111.5:c.53284G>C (TTN) | ENSP00000465570.1:p.Ala17762Pro | |
| ENST00000615779.4:c.53284G>C (TTN) | ENSP00000483597.1:p.Ala17762Pro | |
| NM_001256850.1:c.53284G>C (TTN) | NP_001243779.1:p.Ala17762Pro | |
| NM_001267550.2:c.58207G>C (TTN) MANE Select | NP_001254479.2:p.Ala19403Pro | |
| NM_003319.4:c.31012G>C (TTN) | NP_003310.4:p.Ala10338Pro | |
| NM_133378.4:c.50503G>C (TTN) | NP_596869.4:p.Ala16835Pro | |
| NM_133432.3:c.31387G>C (TTN) | NP_597676.3:p.Ala10463Pro | |
| NM_133437.4:c.31588G>C (TTN) | NP_597681.4:p.Ala10530Pro | |
| NR_038271.1:n.597-3410C>G (TTN-AS1) | ||
| NR_038272.1:n.3364+2872C>G (TTN-AS1) | ||
| XM_011511729.1:c.57304G>C (TTN) | XP_011510031.1:p.Ala19102Pro | |
| XM_011511730.1:c.31198G>C (TTN) | XP_011510032.1:p.Ala10400Pro | |
| XM_011511731.1:c.31057G>C (TTN) | XP_011510033.1:p.Ala10353Pro | |
| XM_017004819.1:c.57100G>C (TTN) | XP_016860308.1:p.Ala19034Pro | |
| XM_017004820.1:c.52498G>C (TTN) | XP_016860309.1:p.Ala17500Pro | |
| XM_017004821.1:c.52495G>C (TTN) | XP_016860310.1:p.Ala17499Pro | |
| XM_017004822.1:c.49537G>C (TTN) | XP_016860311.1:p.Ala16513Pro | |
| XM_017004823.1:c.31153G>C (TTN) | XP_016860312.1:p.Ala10385Pro | |
| XM_024453094.1:c.52648G>C (TTN) | XP_024308862.1:p.Ala17550Pro | |
| XM_024453095.1:c.52645G>C (TTN) | XP_024308863.1:p.Ala17549Pro | |
| XM_024453096.1:c.52078G>C (TTN) | XP_024308864.1:p.Ala17360Pro | |
| XM_024453097.1:c.49420G>C (TTN) | XP_024308865.1:p.Ala16474Pro | |
| XM_024453098.1:c.49339G>C (TTN) | XP_024308866.1:p.Ala16447Pro | |
| XM_024453099.1:c.31102G>C (TTN) | XP_024308867.1:p.Ala10368Pro | |
| XM_024453100.1:c.20956G>C (TTN) | XP_024308868.1:p.Ala6986Pro |