Linked Data
dbSNP Id:
rs775914550
ExAC:
2:179449399 A / C
gnomAD v2:
2-179449399-A-C
gnomAD v4:
2-178584672-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584672A>C , CM000664.2:g.178584672A>C | GRCh38 |
| NC_000002.11:g.179449399A>C , CM000664.1:g.179449399A>C | GRCh37 |
| NC_000002.10:g.179157645A>C | NCBI36 |
| NG_011618.3:g.251131T>G , LRG_391:g.251131T>G | |
| NG_051363.1:g.66846A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.57265T>G (TTN) | ENSP00000343764.6:p.Phe19089Val | |
| ENST00000342175.11:c.38350T>G (TTN) | ENSP00000340554.6:p.Phe12784Val | |
| ENST00000359218.10:c.38149T>G (TTN) | ENSP00000352154.5:p.Phe12717Val | |
| ENST00000342175.10:c.38350T>G (TTN) | ENSP00000340554.6:p.Phe12784Val | |
| ENST00000342992.10:c.57265T>G (TTN) | ENSP00000343764.6:p.Phe19089Val | |
| ENST00000359218.9:c.38149T>G (TTN) | ENSP00000352154.5:p.Phe12717Val | |
| ENST00000460472.6:c.37774T>G (TTN) | ENSP00000434586.1:p.Phe12592Val | |
| ENST00000589042.5:c.64969T>G (TTN) MANE Select | ENSP00000467141.1:p.Phe21657Val | |
| ENST00000591111.5:c.60046T>G (TTN) | ENSP00000465570.1:p.Phe20016Val | |
| ENST00000615779.4:c.60046T>G (TTN) | ENSP00000483597.1:p.Phe20016Val | |
| NM_001256850.1:c.60046T>G (TTN) | NP_001243779.1:p.Phe20016Val | |
| NM_001267550.2:c.64969T>G (TTN) MANE Select | NP_001254479.2:p.Phe21657Val | |
| NM_003319.4:c.37774T>G (TTN) | NP_003310.4:p.Phe12592Val | |
| NM_133378.4:c.57265T>G (TTN) | NP_596869.4:p.Phe19089Val | |
| NM_133432.3:c.38149T>G (TTN) | NP_597676.3:p.Phe12717Val | |
| NM_133437.4:c.38350T>G (TTN) | NP_597681.4:p.Phe12784Val | |
| NR_038271.1:n.597-12924A>C (TTN-AS1) | ||
| NR_038272.1:n.2867A>C (TTN-AS1) | ||
| XM_011511729.1:c.64066T>G (TTN) | XP_011510031.1:p.Phe21356Val | |
| XM_011511730.1:c.37960T>G (TTN) | XP_011510032.1:p.Phe12654Val | |
| XM_011511731.1:c.37819T>G (TTN) | XP_011510033.1:p.Phe12607Val | |
| XM_017004819.1:c.63862T>G (TTN) | XP_016860308.1:p.Phe21288Val | |
| XM_017004820.1:c.59260T>G (TTN) | XP_016860309.1:p.Phe19754Val | |
| XM_017004821.1:c.59257T>G (TTN) | XP_016860310.1:p.Phe19753Val | |
| XM_017004822.1:c.56299T>G (TTN) | XP_016860311.1:p.Phe18767Val | |
| XM_017004823.1:c.37915T>G (TTN) | XP_016860312.1:p.Phe12639Val | |
| XM_024453094.1:c.59410T>G (TTN) | XP_024308862.1:p.Phe19804Val | |
| XM_024453095.1:c.59407T>G (TTN) | XP_024308863.1:p.Phe19803Val | |
| XM_024453096.1:c.58840T>G (TTN) | XP_024308864.1:p.Phe19614Val | |
| XM_024453097.1:c.56182T>G (TTN) | XP_024308865.1:p.Phe18728Val | |
| XM_024453098.1:c.56101T>G (TTN) | XP_024308866.1:p.Phe18701Val | |
| XM_024453099.1:c.37864T>G (TTN) | XP_024308867.1:p.Phe12622Val | |
| XM_024453100.1:c.27718T>G (TTN) | XP_024308868.1:p.Phe9240Val |