Linked Data
ClinVar Variation Id:
1505993
ClinVar RCV Id:
RCV002035882
dbSNP Id:
rs935907208
gnomAD v4:
2-178530609-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530609A>C , CM000664.2:g.178530609A>C | GRCh38 |
| NC_000002.11:g.179395336A>C , CM000664.1:g.179395336A>C | GRCh37 |
| NC_000002.10:g.179103582A>C | NCBI36 |
| NG_011618.3:g.305194T>G , LRG_391:g.305194T>G | |
| NG_051363.1:g.12783A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98302T>G (TTN) | ENSP00000343764.6:p.Tyr32768Asp | |
| ENST00000342175.11:c.79387T>G (TTN) | ENSP00000340554.6:p.Tyr26463Asp | |
| ENST00000359218.10:c.79186T>G (TTN) | ENSP00000352154.5:p.Tyr26396Asp | |
| ENST00000342175.10:c.79387T>G (TTN) | ENSP00000340554.6:p.Tyr26463Asp | |
| ENST00000342992.10:c.98302T>G (TTN) | ENSP00000343764.6:p.Tyr32768Asp | |
| ENST00000359218.9:c.79186T>G (TTN) | ENSP00000352154.5:p.Tyr26396Asp | |
| ENST00000460472.6:c.78811T>G (TTN) | ENSP00000434586.1:p.Tyr26271Asp | |
| ENST00000589042.5:c.106006T>G (TTN) MANE Select | ENSP00000467141.1:p.Tyr35336Asp | |
| ENST00000591111.5:c.101083T>G (TTN) | ENSP00000465570.1:p.Tyr33695Asp | |
| ENST00000615779.4:c.101083T>G (TTN) | ENSP00000483597.1:p.Tyr33695Asp | |
| NM_001256850.1:c.101083T>G (TTN) | NP_001243779.1:p.Tyr33695Asp | |
| NM_001267550.2:c.106006T>G (TTN) MANE Select | NP_001254479.2:p.Tyr35336Asp | |
| NM_003319.4:c.78811T>G (TTN) | NP_003310.4:p.Tyr26271Asp | |
| NM_133378.4:c.98302T>G (TTN) | NP_596869.4:p.Tyr32768Asp | |
| NM_133432.3:c.79186T>G (TTN) | NP_597676.3:p.Tyr26396Asp | |
| NM_133437.4:c.79387T>G (TTN) | NP_597681.4:p.Tyr26463Asp | |
| NR_038271.1:n.446+6973A>C (TTN-AS1) | ||
| NR_038272.1:n.220-5123A>C (TTN-AS1) | ||
| XM_011511729.1:c.105103T>G (TTN) | XP_011510031.1:p.Tyr35035Asp | |
| XM_011511730.1:c.78997T>G (TTN) | XP_011510032.1:p.Tyr26333Asp | |
| XM_011511731.1:c.78856T>G (TTN) | XP_011510033.1:p.Tyr26286Asp | |
| XM_017004819.1:c.104899T>G (TTN) | XP_016860308.1:p.Tyr34967Asp | |
| XM_017004820.1:c.100297T>G (TTN) | XP_016860309.1:p.Tyr33433Asp | |
| XM_017004821.1:c.100294T>G (TTN) | XP_016860310.1:p.Tyr33432Asp | |
| XM_017004822.1:c.97336T>G (TTN) | XP_016860311.1:p.Tyr32446Asp | |
| XM_017004823.1:c.78952T>G (TTN) | XP_016860312.1:p.Tyr26318Asp | |
| XM_024453094.1:c.100447T>G (TTN) | XP_024308862.1:p.Tyr33483Asp | |
| XM_024453095.1:c.100444T>G (TTN) | XP_024308863.1:p.Tyr33482Asp | |
| XM_024453096.1:c.99877T>G (TTN) | XP_024308864.1:p.Tyr33293Asp | |
| XM_024453097.1:c.97219T>G (TTN) | XP_024308865.1:p.Tyr32407Asp | |
| XM_024453098.1:c.97138T>G (TTN) | XP_024308866.1:p.Tyr32380Asp | |
| XM_024453099.1:c.78901T>G (TTN) | XP_024308867.1:p.Tyr26301Asp | |
| XM_024453100.1:c.68755T>G (TTN) | XP_024308868.1:p.Tyr22919Asp |