Linked Data
dbSNP Id:
rs555785232
ExAC:
2:179449407 T / C
gnomAD v2:
2-179449407-T-C
gnomAD v3:
2-178584680-T-C
gnomAD v4:
2-178584680-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584680T>C , CM000664.2:g.178584680T>C | GRCh38 |
| NC_000002.11:g.179449407T>C , CM000664.1:g.179449407T>C | GRCh37 |
| NC_000002.10:g.179157653T>C | NCBI36 |
| NG_011618.3:g.251123A>G , LRG_391:g.251123A>G | |
| NG_051363.1:g.66854T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.57257A>G (TTN) | ENSP00000343764.6:p.Gln19086Arg | |
| ENST00000342175.11:c.38342A>G (TTN) | ENSP00000340554.6:p.Gln12781Arg | |
| ENST00000359218.10:c.38141A>G (TTN) | ENSP00000352154.5:p.Gln12714Arg | |
| ENST00000342175.10:c.38342A>G (TTN) | ENSP00000340554.6:p.Gln12781Arg | |
| ENST00000342992.10:c.57257A>G (TTN) | ENSP00000343764.6:p.Gln19086Arg | |
| ENST00000359218.9:c.38141A>G (TTN) | ENSP00000352154.5:p.Gln12714Arg | |
| ENST00000460472.6:c.37766A>G (TTN) | ENSP00000434586.1:p.Gln12589Arg | |
| ENST00000589042.5:c.64961A>G (TTN) MANE Select | ENSP00000467141.1:p.Gln21654Arg | |
| ENST00000591111.5:c.60038A>G (TTN) | ENSP00000465570.1:p.Gln20013Arg | |
| ENST00000615779.4:c.60038A>G (TTN) | ENSP00000483597.1:p.Gln20013Arg | |
| NM_001256850.1:c.60038A>G (TTN) | NP_001243779.1:p.Gln20013Arg | |
| NM_001267550.2:c.64961A>G (TTN) MANE Select | NP_001254479.2:p.Gln21654Arg | |
| NM_003319.4:c.37766A>G (TTN) | NP_003310.4:p.Gln12589Arg | |
| NM_133378.4:c.57257A>G (TTN) | NP_596869.4:p.Gln19086Arg | |
| NM_133432.3:c.38141A>G (TTN) | NP_597676.3:p.Gln12714Arg | |
| NM_133437.4:c.38342A>G (TTN) | NP_597681.4:p.Gln12781Arg | |
| NR_038271.1:n.597-12916T>C (TTN-AS1) | ||
| NR_038272.1:n.2875T>C (TTN-AS1) | ||
| XM_011511729.1:c.64058A>G (TTN) | XP_011510031.1:p.Gln21353Arg | |
| XM_011511730.1:c.37952A>G (TTN) | XP_011510032.1:p.Gln12651Arg | |
| XM_011511731.1:c.37811A>G (TTN) | XP_011510033.1:p.Gln12604Arg | |
| XM_017004819.1:c.63854A>G (TTN) | XP_016860308.1:p.Gln21285Arg | |
| XM_017004820.1:c.59252A>G (TTN) | XP_016860309.1:p.Gln19751Arg | |
| XM_017004821.1:c.59249A>G (TTN) | XP_016860310.1:p.Gln19750Arg | |
| XM_017004822.1:c.56291A>G (TTN) | XP_016860311.1:p.Gln18764Arg | |
| XM_017004823.1:c.37907A>G (TTN) | XP_016860312.1:p.Gln12636Arg | |
| XM_024453094.1:c.59402A>G (TTN) | XP_024308862.1:p.Gln19801Arg | |
| XM_024453095.1:c.59399A>G (TTN) | XP_024308863.1:p.Gln19800Arg | |
| XM_024453096.1:c.58832A>G (TTN) | XP_024308864.1:p.Gln19611Arg | |
| XM_024453097.1:c.56174A>G (TTN) | XP_024308865.1:p.Gln18725Arg | |
| XM_024453098.1:c.56093A>G (TTN) | XP_024308866.1:p.Gln18698Arg | |
| XM_024453099.1:c.37856A>G (TTN) | XP_024308867.1:p.Gln12619Arg | |
| XM_024453100.1:c.27710A>G (TTN) | XP_024308868.1:p.Gln9237Arg |