Linked Data
ClinVar Variation Id:
871998
dbSNP Id:
rs1281337813
gnomAD v2:
2-179432117-T-G
gnomAD v4:
2-178567390-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178567390T>G , CM000664.2:g.178567390T>G | GRCh38 |
| NC_000002.11:g.179432117T>G , CM000664.1:g.179432117T>G | GRCh37 |
| NC_000002.10:g.179140363T>G | NCBI36 |
| NG_011618.3:g.268413A>C , LRG_391:g.268413A>C | |
| NG_051363.1:g.49564T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.71038A>C (TTN) | ENSP00000343764.6:p.Lys23680Gln | |
| ENST00000342175.11:c.52123A>C (TTN) | ENSP00000340554.6:p.Lys17375Gln | |
| ENST00000359218.10:c.51922A>C (TTN) | ENSP00000352154.5:p.Lys17308Gln | |
| ENST00000342175.10:c.52123A>C (TTN) | ENSP00000340554.6:p.Lys17375Gln | |
| ENST00000342992.10:c.71038A>C (TTN) | ENSP00000343764.6:p.Lys23680Gln | |
| ENST00000359218.9:c.51922A>C (TTN) | ENSP00000352154.5:p.Lys17308Gln | |
| ENST00000460472.6:c.51547A>C (TTN) | ENSP00000434586.1:p.Lys17183Gln | |
| ENST00000589042.5:c.78742A>C (TTN) MANE Select | ENSP00000467141.1:p.Lys26248Gln | |
| ENST00000591111.5:c.73819A>C (TTN) | ENSP00000465570.1:p.Lys24607Gln | |
| ENST00000615779.4:c.73819A>C (TTN) | ENSP00000483597.1:p.Lys24607Gln | |
| NM_001256850.1:c.73819A>C (TTN) | NP_001243779.1:p.Lys24607Gln | |
| NM_001267550.2:c.78742A>C (TTN) MANE Select | NP_001254479.2:p.Lys26248Gln | |
| NM_003319.4:c.51547A>C (TTN) | NP_003310.4:p.Lys17183Gln | |
| NM_133378.4:c.71038A>C (TTN) | NP_596869.4:p.Lys23680Gln | |
| NM_133432.3:c.51922A>C (TTN) | NP_597676.3:p.Lys17308Gln | |
| NM_133437.4:c.52123A>C (TTN) | NP_597681.4:p.Lys17375Gln | |
| NR_038271.1:n.447-3910T>G (TTN-AS1) | ||
| NR_038272.1:n.2044-15182T>G (TTN-AS1) | ||
| XM_011511729.1:c.77839A>C (TTN) | XP_011510031.1:p.Lys25947Gln | |
| XM_011511730.1:c.51733A>C (TTN) | XP_011510032.1:p.Lys17245Gln | |
| XM_011511731.1:c.51592A>C (TTN) | XP_011510033.1:p.Lys17198Gln | |
| XM_017004819.1:c.77635A>C (TTN) | XP_016860308.1:p.Lys25879Gln | |
| XM_017004820.1:c.73033A>C (TTN) | XP_016860309.1:p.Lys24345Gln | |
| XM_017004821.1:c.73030A>C (TTN) | XP_016860310.1:p.Lys24344Gln | |
| XM_017004822.1:c.70072A>C (TTN) | XP_016860311.1:p.Lys23358Gln | |
| XM_017004823.1:c.51688A>C (TTN) | XP_016860312.1:p.Lys17230Gln | |
| XM_024453094.1:c.73183A>C (TTN) | XP_024308862.1:p.Lys24395Gln | |
| XM_024453095.1:c.73180A>C (TTN) | XP_024308863.1:p.Lys24394Gln | |
| XM_024453096.1:c.72613A>C (TTN) | XP_024308864.1:p.Lys24205Gln | |
| XM_024453097.1:c.69955A>C (TTN) | XP_024308865.1:p.Lys23319Gln | |
| XM_024453098.1:c.69874A>C (TTN) | XP_024308866.1:p.Lys23292Gln | |
| XM_024453099.1:c.51637A>C (TTN) | XP_024308867.1:p.Lys17213Gln | |
| XM_024453100.1:c.41491A>C (TTN) | XP_024308868.1:p.Lys13831Gln |