Linked Data
dbSNP Id:
rs775423429
ExAC:
2:179422528 A / G
gnomAD v2:
2-179422528-A-G
gnomAD v4:
2-178557801-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557801A>G , CM000664.2:g.178557801A>G | GRCh38 |
| NC_000002.11:g.179422528A>G , CM000664.1:g.179422528A>G | GRCh37 |
| NC_000002.10:g.179130774A>G | NCBI36 |
| NG_011618.3:g.278002T>C , LRG_391:g.278002T>C | |
| NG_051363.1:g.39975A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.79849T>C (TTN) | ENSP00000343764.6:p.Trp26617Arg | |
| ENST00000342175.11:c.60934T>C (TTN) | ENSP00000340554.6:p.Trp20312Arg | |
| ENST00000359218.10:c.60733T>C (TTN) | ENSP00000352154.5:p.Trp20245Arg | |
| ENST00000342175.10:c.60934T>C (TTN) | ENSP00000340554.6:p.Trp20312Arg | |
| ENST00000342992.10:c.79849T>C (TTN) | ENSP00000343764.6:p.Trp26617Arg | |
| ENST00000359218.9:c.60733T>C (TTN) | ENSP00000352154.5:p.Trp20245Arg | |
| ENST00000460472.6:c.60358T>C (TTN) | ENSP00000434586.1:p.Trp20120Arg | |
| ENST00000589042.5:c.87553T>C (TTN) MANE Select | ENSP00000467141.1:p.Trp29185Arg | |
| ENST00000591111.5:c.82630T>C (TTN) | ENSP00000465570.1:p.Trp27544Arg | |
| ENST00000615779.4:c.82630T>C (TTN) | ENSP00000483597.1:p.Trp27544Arg | |
| NM_001256850.1:c.82630T>C (TTN) | NP_001243779.1:p.Trp27544Arg | |
| NM_001267550.2:c.87553T>C (TTN) MANE Select | NP_001254479.2:p.Trp29185Arg | |
| NM_003319.4:c.60358T>C (TTN) | NP_003310.4:p.Trp20120Arg | |
| NM_133378.4:c.79849T>C (TTN) | NP_596869.4:p.Trp26617Arg | |
| NM_133432.3:c.60733T>C (TTN) | NP_597676.3:p.Trp20245Arg | |
| NM_133437.4:c.60934T>C (TTN) | NP_597681.4:p.Trp20312Arg | |
| NR_038271.1:n.447-13499A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+15440A>G (TTN-AS1) | ||
| XM_011511729.1:c.86650T>C (TTN) | XP_011510031.1:p.Trp28884Arg | |
| XM_011511730.1:c.60544T>C (TTN) | XP_011510032.1:p.Trp20182Arg | |
| XM_011511731.1:c.60403T>C (TTN) | XP_011510033.1:p.Trp20135Arg | |
| XM_017004819.1:c.86446T>C (TTN) | XP_016860308.1:p.Trp28816Arg | |
| XM_017004820.1:c.81844T>C (TTN) | XP_016860309.1:p.Trp27282Arg | |
| XM_017004821.1:c.81841T>C (TTN) | XP_016860310.1:p.Trp27281Arg | |
| XM_017004822.1:c.78883T>C (TTN) | XP_016860311.1:p.Trp26295Arg | |
| XM_017004823.1:c.60499T>C (TTN) | XP_016860312.1:p.Trp20167Arg | |
| XM_024453094.1:c.81994T>C (TTN) | XP_024308862.1:p.Trp27332Arg | |
| XM_024453095.1:c.81991T>C (TTN) | XP_024308863.1:p.Trp27331Arg | |
| XM_024453096.1:c.81424T>C (TTN) | XP_024308864.1:p.Trp27142Arg | |
| XM_024453097.1:c.78766T>C (TTN) | XP_024308865.1:p.Trp26256Arg | |
| XM_024453098.1:c.78685T>C (TTN) | XP_024308866.1:p.Trp26229Arg | |
| XM_024453099.1:c.60448T>C (TTN) | XP_024308867.1:p.Trp20150Arg | |
| XM_024453100.1:c.50302T>C (TTN) | XP_024308868.1:p.Trp16768Arg |