Linked Data
ClinVar Variation Id:
502239
dbSNP Id:
rs372841288
ExAC:
2:179392260 C / T
gnomAD v2:
2-179392260-C-T
gnomAD v3:
2-178527533-C-T
gnomAD v4:
2-178527533-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527533C>T , CM000664.2:g.178527533C>T | GRCh38 |
| NC_000002.11:g.179392260C>T , CM000664.1:g.179392260C>T | GRCh37 |
| NC_000002.10:g.179100506C>T | NCBI36 |
| NG_011618.3:g.308270G>A , LRG_391:g.308270G>A | |
| NG_051363.1:g.9707C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.99889G>A (TTN) | ENSP00000343764.6:p.Glu33297Lys | |
| ENST00000342175.11:c.80974G>A (TTN) | ENSP00000340554.6:p.Glu26992Lys | |
| ENST00000359218.10:c.80773G>A (TTN) | ENSP00000352154.5:p.Glu26925Lys | |
| ENST00000342175.10:c.80974G>A (TTN) | ENSP00000340554.6:p.Glu26992Lys | |
| ENST00000342992.10:c.99889G>A (TTN) | ENSP00000343764.6:p.Glu33297Lys | |
| ENST00000359218.9:c.80773G>A (TTN) | ENSP00000352154.5:p.Glu26925Lys | |
| ENST00000460472.6:c.80398G>A (TTN) | ENSP00000434586.1:p.Glu26800Lys | |
| ENST00000589042.5:c.107593G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu35865Lys | |
| ENST00000591111.5:c.102670G>A (TTN) | ENSP00000465570.1:p.Glu34224Lys | |
| ENST00000615779.4:c.102670G>A (TTN) | ENSP00000483597.1:p.Glu34224Lys | |
| NM_001256850.1:c.102670G>A (TTN) | NP_001243779.1:p.Glu34224Lys | |
| NM_001267550.2:c.107593G>A (TTN) MANE Select | NP_001254479.2:p.Glu35865Lys | |
| NM_003319.4:c.80398G>A (TTN) | NP_003310.4:p.Glu26800Lys | |
| NM_133378.4:c.99889G>A (TTN) | NP_596869.4:p.Glu33297Lys | |
| NM_133432.3:c.80773G>A (TTN) | NP_597676.3:p.Glu26925Lys | |
| NM_133437.4:c.80974G>A (TTN) | NP_597681.4:p.Glu26992Lys | |
| NR_038271.1:n.446+3897C>T (TTN-AS1) | ||
| NR_038272.1:n.219+3897C>T (TTN-AS1) | ||
| XM_011511729.1:c.106690G>A (TTN) | XP_011510031.1:p.Glu35564Lys | |
| XM_011511730.1:c.80584G>A (TTN) | XP_011510032.1:p.Glu26862Lys | |
| XM_011511731.1:c.80443G>A (TTN) | XP_011510033.1:p.Glu26815Lys | |
| XM_017004819.1:c.106486G>A (TTN) | XP_016860308.1:p.Glu35496Lys | |
| XM_017004820.1:c.101884G>A (TTN) | XP_016860309.1:p.Glu33962Lys | |
| XM_017004821.1:c.101881G>A (TTN) | XP_016860310.1:p.Glu33961Lys | |
| XM_017004822.1:c.98923G>A (TTN) | XP_016860311.1:p.Glu32975Lys | |
| XM_017004823.1:c.80539G>A (TTN) | XP_016860312.1:p.Glu26847Lys | |
| XM_024453094.1:c.102034G>A (TTN) | XP_024308862.1:p.Glu34012Lys | |
| XM_024453095.1:c.102031G>A (TTN) | XP_024308863.1:p.Glu34011Lys | |
| XM_024453096.1:c.101464G>A (TTN) | XP_024308864.1:p.Glu33822Lys | |
| XM_024453097.1:c.98806G>A (TTN) | XP_024308865.1:p.Glu32936Lys | |
| XM_024453098.1:c.98725G>A (TTN) | XP_024308866.1:p.Glu32909Lys | |
| XM_024453099.1:c.80488G>A (TTN) | XP_024308867.1:p.Glu26830Lys | |
| XM_024453100.1:c.70342G>A (TTN) | XP_024308868.1:p.Glu23448Lys |