Linked Data
dbSNP Id:
rs748359406
ExAC:
2:179408004 G / T
gnomAD v2:
2-179408004-G-T
gnomAD v4:
2-178543277-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543277G>T , CM000664.2:g.178543277G>T | GRCh38 |
| NC_000002.11:g.179408004G>T , CM000664.1:g.179408004G>T | GRCh37 |
| NC_000002.10:g.179116250G>T | NCBI36 |
| NG_011618.3:g.292526C>A , LRG_391:g.292526C>A | |
| NG_051363.1:g.25451G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88992C>A (TTN) | ENSP00000343764.6:p.Ser29664Arg | |
| ENST00000342175.11:c.70077C>A (TTN) | ENSP00000340554.6:p.Ser23359Arg | |
| ENST00000359218.10:c.69876C>A (TTN) | ENSP00000352154.5:p.Ser23292Arg | |
| ENST00000342175.10:c.70077C>A (TTN) | ENSP00000340554.6:p.Ser23359Arg | |
| ENST00000342992.10:c.88992C>A (TTN) | ENSP00000343764.6:p.Ser29664Arg | |
| ENST00000359218.9:c.69876C>A (TTN) | ENSP00000352154.5:p.Ser23292Arg | |
| ENST00000460472.6:c.69501C>A (TTN) | ENSP00000434586.1:p.Ser23167Arg | |
| ENST00000589042.5:c.96696C>A (TTN) MANE Select | ENSP00000467141.1:p.Ser32232Arg | |
| ENST00000591111.5:c.91773C>A (TTN) | ENSP00000465570.1:p.Ser30591Arg | |
| ENST00000615779.4:c.91773C>A (TTN) | ENSP00000483597.1:p.Ser30591Arg | |
| NM_001256850.1:c.91773C>A (TTN) | NP_001243779.1:p.Ser30591Arg | |
| NM_001267550.2:c.96696C>A (TTN) MANE Select | NP_001254479.2:p.Ser32232Arg | |
| NM_003319.4:c.69501C>A (TTN) | NP_003310.4:p.Ser23167Arg | |
| NM_133378.4:c.88992C>A (TTN) | NP_596869.4:p.Ser29664Arg | |
| NM_133432.3:c.69876C>A (TTN) | NP_597676.3:p.Ser23292Arg | |
| NM_133437.4:c.70077C>A (TTN) | NP_597681.4:p.Ser23359Arg | |
| NR_038271.1:n.446+19641G>T (TTN-AS1) | ||
| NR_038272.1:n.2043+916G>T (TTN-AS1) | ||
| XM_011511729.1:c.95793C>A (TTN) | XP_011510031.1:p.Ser31931Arg | |
| XM_011511730.1:c.69687C>A (TTN) | XP_011510032.1:p.Ser23229Arg | |
| XM_011511731.1:c.69546C>A (TTN) | XP_011510033.1:p.Ser23182Arg | |
| XM_017004819.1:c.95589C>A (TTN) | XP_016860308.1:p.Ser31863Arg | |
| XM_017004820.1:c.90987C>A (TTN) | XP_016860309.1:p.Ser30329Arg | |
| XM_017004821.1:c.90984C>A (TTN) | XP_016860310.1:p.Ser30328Arg | |
| XM_017004822.1:c.88026C>A (TTN) | XP_016860311.1:p.Ser29342Arg | |
| XM_017004823.1:c.69642C>A (TTN) | XP_016860312.1:p.Ser23214Arg | |
| XM_024453094.1:c.91137C>A (TTN) | XP_024308862.1:p.Ser30379Arg | |
| XM_024453095.1:c.91134C>A (TTN) | XP_024308863.1:p.Ser30378Arg | |
| XM_024453096.1:c.90567C>A (TTN) | XP_024308864.1:p.Ser30189Arg | |
| XM_024453097.1:c.87909C>A (TTN) | XP_024308865.1:p.Ser29303Arg | |
| XM_024453098.1:c.87828C>A (TTN) | XP_024308866.1:p.Ser29276Arg | |
| XM_024453099.1:c.69591C>A (TTN) | XP_024308867.1:p.Ser23197Arg | |
| XM_024453100.1:c.59445C>A (TTN) | XP_024308868.1:p.Ser19815Arg |