Linked Data
dbSNP Id:
rs528138560
ExAC:
2:179394827 C / T
gnomAD v2:
2-179394827-C-T
gnomAD v3:
2-178530100-C-T
gnomAD v4:
2-178530100-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530100C>T , CM000664.2:g.178530100C>T | GRCh38 |
| NC_000002.11:g.179394827C>T , CM000664.1:g.179394827C>T | GRCh37 |
| NC_000002.10:g.179103073C>T | NCBI36 |
| NG_011618.3:g.305703G>A , LRG_391:g.305703G>A | |
| NG_051363.1:g.12274C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98687G>A (TTN) | ENSP00000343764.6:p.Gly32896Asp | |
| ENST00000342175.11:c.79772G>A (TTN) | ENSP00000340554.6:p.Gly26591Asp | |
| ENST00000359218.10:c.79571G>A (TTN) | ENSP00000352154.5:p.Gly26524Asp | |
| ENST00000342175.10:c.79772G>A (TTN) | ENSP00000340554.6:p.Gly26591Asp | |
| ENST00000342992.10:c.98687G>A (TTN) | ENSP00000343764.6:p.Gly32896Asp | |
| ENST00000359218.9:c.79571G>A (TTN) | ENSP00000352154.5:p.Gly26524Asp | |
| ENST00000460472.6:c.79196G>A (TTN) | ENSP00000434586.1:p.Gly26399Asp | |
| ENST00000589042.5:c.106391G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly35464Asp | |
| ENST00000591111.5:c.101468G>A (TTN) | ENSP00000465570.1:p.Gly33823Asp | |
| ENST00000615779.4:c.101468G>A (TTN) | ENSP00000483597.1:p.Gly33823Asp | |
| NM_001256850.1:c.101468G>A (TTN) | NP_001243779.1:p.Gly33823Asp | |
| NM_001267550.2:c.106391G>A (TTN) MANE Select | NP_001254479.2:p.Gly35464Asp | |
| NM_003319.4:c.79196G>A (TTN) | NP_003310.4:p.Gly26399Asp | |
| NM_133378.4:c.98687G>A (TTN) | NP_596869.4:p.Gly32896Asp | |
| NM_133432.3:c.79571G>A (TTN) | NP_597676.3:p.Gly26524Asp | |
| NM_133437.4:c.79772G>A (TTN) | NP_597681.4:p.Gly26591Asp | |
| NR_038271.1:n.446+6464C>T (TTN-AS1) | ||
| NR_038272.1:n.220-5632C>T (TTN-AS1) | ||
| XM_011511729.1:c.105488G>A (TTN) | XP_011510031.1:p.Gly35163Asp | |
| XM_011511730.1:c.79382G>A (TTN) | XP_011510032.1:p.Gly26461Asp | |
| XM_011511731.1:c.79241G>A (TTN) | XP_011510033.1:p.Gly26414Asp | |
| XM_017004819.1:c.105284G>A (TTN) | XP_016860308.1:p.Gly35095Asp | |
| XM_017004820.1:c.100682G>A (TTN) | XP_016860309.1:p.Gly33561Asp | |
| XM_017004821.1:c.100679G>A (TTN) | XP_016860310.1:p.Gly33560Asp | |
| XM_017004822.1:c.97721G>A (TTN) | XP_016860311.1:p.Gly32574Asp | |
| XM_017004823.1:c.79337G>A (TTN) | XP_016860312.1:p.Gly26446Asp | |
| XM_024453094.1:c.100832G>A (TTN) | XP_024308862.1:p.Gly33611Asp | |
| XM_024453095.1:c.100829G>A (TTN) | XP_024308863.1:p.Gly33610Asp | |
| XM_024453096.1:c.100262G>A (TTN) | XP_024308864.1:p.Gly33421Asp | |
| XM_024453097.1:c.97604G>A (TTN) | XP_024308865.1:p.Gly32535Asp | |
| XM_024453098.1:c.97523G>A (TTN) | XP_024308866.1:p.Gly32508Asp | |
| XM_024453099.1:c.79286G>A (TTN) | XP_024308867.1:p.Gly26429Asp | |
| XM_024453100.1:c.69140G>A (TTN) | XP_024308868.1:p.Gly23047Asp |