Linked Data
dbSNP Id:
rs745753316
ExAC:
2:179395162 T / G
gnomAD v2:
2-179395162-T-G
gnomAD v4:
2-178530435-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530435T>G , CM000664.2:g.178530435T>G | GRCh38 |
| NC_000002.11:g.179395162T>G , CM000664.1:g.179395162T>G | GRCh37 |
| NC_000002.10:g.179103408T>G | NCBI36 |
| NG_011618.3:g.305368A>C , LRG_391:g.305368A>C | |
| NG_051363.1:g.12609T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98476A>C (TTN) | ENSP00000343764.6:p.Lys32826Gln | |
| ENST00000342175.11:c.79561A>C (TTN) | ENSP00000340554.6:p.Lys26521Gln | |
| ENST00000359218.10:c.79360A>C (TTN) | ENSP00000352154.5:p.Lys26454Gln | |
| ENST00000342175.10:c.79561A>C (TTN) | ENSP00000340554.6:p.Lys26521Gln | |
| ENST00000342992.10:c.98476A>C (TTN) | ENSP00000343764.6:p.Lys32826Gln | |
| ENST00000359218.9:c.79360A>C (TTN) | ENSP00000352154.5:p.Lys26454Gln | |
| ENST00000460472.6:c.78985A>C (TTN) | ENSP00000434586.1:p.Lys26329Gln | |
| ENST00000589042.5:c.106180A>C (TTN) MANE Select | ENSP00000467141.1:p.Lys35394Gln | |
| ENST00000591111.5:c.101257A>C (TTN) | ENSP00000465570.1:p.Lys33753Gln | |
| ENST00000615779.4:c.101257A>C (TTN) | ENSP00000483597.1:p.Lys33753Gln | |
| NM_001256850.1:c.101257A>C (TTN) | NP_001243779.1:p.Lys33753Gln | |
| NM_001267550.2:c.106180A>C (TTN) MANE Select | NP_001254479.2:p.Lys35394Gln | |
| NM_003319.4:c.78985A>C (TTN) | NP_003310.4:p.Lys26329Gln | |
| NM_133378.4:c.98476A>C (TTN) | NP_596869.4:p.Lys32826Gln | |
| NM_133432.3:c.79360A>C (TTN) | NP_597676.3:p.Lys26454Gln | |
| NM_133437.4:c.79561A>C (TTN) | NP_597681.4:p.Lys26521Gln | |
| NR_038271.1:n.446+6799T>G (TTN-AS1) | ||
| NR_038272.1:n.220-5297T>G (TTN-AS1) | ||
| XM_011511729.1:c.105277A>C (TTN) | XP_011510031.1:p.Lys35093Gln | |
| XM_011511730.1:c.79171A>C (TTN) | XP_011510032.1:p.Lys26391Gln | |
| XM_011511731.1:c.79030A>C (TTN) | XP_011510033.1:p.Lys26344Gln | |
| XM_017004819.1:c.105073A>C (TTN) | XP_016860308.1:p.Lys35025Gln | |
| XM_017004820.1:c.100471A>C (TTN) | XP_016860309.1:p.Lys33491Gln | |
| XM_017004821.1:c.100468A>C (TTN) | XP_016860310.1:p.Lys33490Gln | |
| XM_017004822.1:c.97510A>C (TTN) | XP_016860311.1:p.Lys32504Gln | |
| XM_017004823.1:c.79126A>C (TTN) | XP_016860312.1:p.Lys26376Gln | |
| XM_024453094.1:c.100621A>C (TTN) | XP_024308862.1:p.Lys33541Gln | |
| XM_024453095.1:c.100618A>C (TTN) | XP_024308863.1:p.Lys33540Gln | |
| XM_024453096.1:c.100051A>C (TTN) | XP_024308864.1:p.Lys33351Gln | |
| XM_024453097.1:c.97393A>C (TTN) | XP_024308865.1:p.Lys32465Gln | |
| XM_024453098.1:c.97312A>C (TTN) | XP_024308866.1:p.Lys32438Gln | |
| XM_024453099.1:c.79075A>C (TTN) | XP_024308867.1:p.Lys26359Gln | |
| XM_024453100.1:c.68929A>C (TTN) | XP_024308868.1:p.Lys22977Gln |