Linked Data
dbSNP Id:
rs776451592
ExAC:
2:179483516 C / T
gnomAD v2:
2-179483516-C-T
gnomAD v4:
2-178618789-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178618789C>T , CM000664.2:g.178618789C>T | GRCh38 |
| NC_000002.11:g.179483516C>T , CM000664.1:g.179483516C>T | GRCh37 |
| NC_000002.10:g.179191761C>T | NCBI36 |
| NG_011618.3:g.217014G>A , LRG_391:g.217014G>A | |
| NG_051363.1:g.100963C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39057G>A (TTN) | ENSP00000343764.6:p.Met13019Ile | |
| ENST00000342175.11:c.20142G>A (TTN) | ENSP00000340554.6:p.Met6714Ile | |
| ENST00000359218.10:c.19941G>A (TTN) | ENSP00000352154.5:p.Met6647Ile | |
| ENST00000342175.10:c.20142G>A (TTN) | ENSP00000340554.6:p.Met6714Ile | |
| ENST00000342992.10:c.39057G>A (TTN) | ENSP00000343764.6:p.Met13019Ile | |
| ENST00000359218.9:c.19941G>A (TTN) | ENSP00000352154.5:p.Met6647Ile | |
| ENST00000460472.6:c.19566G>A (TTN) | ENSP00000434586.1:p.Met6522Ile | |
| ENST00000589042.5:c.46761G>A (TTN) MANE Select | ENSP00000467141.1:p.Met15587Ile | |
| ENST00000591111.5:c.41838G>A (TTN) | ENSP00000465570.1:p.Met13946Ile | |
| ENST00000615779.4:c.41838G>A (TTN) | ENSP00000483597.1:p.Met13946Ile | |
| NM_001256850.1:c.41838G>A (TTN) | NP_001243779.1:p.Met13946Ile | |
| NM_001267550.2:c.46761G>A (TTN) MANE Select | NP_001254479.2:p.Met15587Ile | |
| NM_003319.4:c.19566G>A (TTN) | NP_003310.4:p.Met6522Ile | |
| NM_133378.4:c.39057G>A (TTN) | NP_596869.4:p.Met13019Ile | |
| NM_133432.3:c.19941G>A (TTN) | NP_597676.3:p.Met6647Ile | |
| NM_133437.4:c.20142G>A (TTN) | NP_597681.4:p.Met6714Ile | |
| NR_038271.1:n.1605-964C>T (TTN-AS1) | ||
| XM_011511729.1:c.45858G>A (TTN) | XP_011510031.1:p.Met15286Ile | |
| XM_011511730.1:c.19752G>A (TTN) | XP_011510032.1:p.Met6584Ile | |
| XM_011511731.1:c.19611G>A (TTN) | XP_011510033.1:p.Met6537Ile | |
| XM_017004819.1:c.45654G>A (TTN) | XP_016860308.1:p.Met15218Ile | |
| XM_017004820.1:c.41052G>A (TTN) | XP_016860309.1:p.Met13684Ile | |
| XM_017004821.1:c.41049G>A (TTN) | XP_016860310.1:p.Met13683Ile | |
| XM_017004822.1:c.38091G>A (TTN) | XP_016860311.1:p.Met12697Ile | |
| XM_017004823.1:c.19707G>A (TTN) | XP_016860312.1:p.Met6569Ile | |
| XM_024453094.1:c.41202G>A (TTN) | XP_024308862.1:p.Met13734Ile | |
| XM_024453095.1:c.41199G>A (TTN) | XP_024308863.1:p.Met13733Ile | |
| XM_024453096.1:c.40632G>A (TTN) | XP_024308864.1:p.Met13544Ile | |
| XM_024453097.1:c.37974G>A (TTN) | XP_024308865.1:p.Met12658Ile | |
| XM_024453098.1:c.37893G>A (TTN) | XP_024308866.1:p.Met12631Ile | |
| XM_024453099.1:c.19656G>A (TTN) | XP_024308867.1:p.Met6552Ile | |
| XM_024453100.1:c.9510G>A (TTN) | XP_024308868.1:p.Met3170Ile |