Linked Data
ClinVar Variation Id:
661657
ClinVar RCV Id:
RCV000819126
dbSNP Id:
rs780037060
gnomAD v4:
2-178530558-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530558C>T , CM000664.2:g.178530558C>T | GRCh38 |
| NC_000002.11:g.179395285C>T , CM000664.1:g.179395285C>T | GRCh37 |
| NC_000002.10:g.179103531C>T | NCBI36 |
| NG_011618.3:g.305245G>A , LRG_391:g.305245G>A | |
| NG_051363.1:g.12732C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98353G>A (TTN) | ENSP00000343764.6:p.Asp32785Asn | |
| ENST00000342175.11:c.79438G>A (TTN) | ENSP00000340554.6:p.Asp26480Asn | |
| ENST00000359218.10:c.79237G>A (TTN) | ENSP00000352154.5:p.Asp26413Asn | |
| ENST00000342175.10:c.79438G>A (TTN) | ENSP00000340554.6:p.Asp26480Asn | |
| ENST00000342992.10:c.98353G>A (TTN) | ENSP00000343764.6:p.Asp32785Asn | |
| ENST00000359218.9:c.79237G>A (TTN) | ENSP00000352154.5:p.Asp26413Asn | |
| ENST00000460472.6:c.78862G>A (TTN) | ENSP00000434586.1:p.Asp26288Asn | |
| ENST00000589042.5:c.106057G>A (TTN) MANE Select | ENSP00000467141.1:p.Asp35353Asn | |
| ENST00000591111.5:c.101134G>A (TTN) | ENSP00000465570.1:p.Asp33712Asn | |
| ENST00000615779.4:c.101134G>A (TTN) | ENSP00000483597.1:p.Asp33712Asn | |
| NM_001256850.1:c.101134G>A (TTN) | NP_001243779.1:p.Asp33712Asn | |
| NM_001267550.2:c.106057G>A (TTN) MANE Select | NP_001254479.2:p.Asp35353Asn | |
| NM_003319.4:c.78862G>A (TTN) | NP_003310.4:p.Asp26288Asn | |
| NM_133378.4:c.98353G>A (TTN) | NP_596869.4:p.Asp32785Asn | |
| NM_133432.3:c.79237G>A (TTN) | NP_597676.3:p.Asp26413Asn | |
| NM_133437.4:c.79438G>A (TTN) | NP_597681.4:p.Asp26480Asn | |
| NR_038271.1:n.446+6922C>T (TTN-AS1) | ||
| NR_038272.1:n.220-5174C>T (TTN-AS1) | ||
| XM_011511729.1:c.105154G>A (TTN) | XP_011510031.1:p.Asp35052Asn | |
| XM_011511730.1:c.79048G>A (TTN) | XP_011510032.1:p.Asp26350Asn | |
| XM_011511731.1:c.78907G>A (TTN) | XP_011510033.1:p.Asp26303Asn | |
| XM_017004819.1:c.104950G>A (TTN) | XP_016860308.1:p.Asp34984Asn | |
| XM_017004820.1:c.100348G>A (TTN) | XP_016860309.1:p.Asp33450Asn | |
| XM_017004821.1:c.100345G>A (TTN) | XP_016860310.1:p.Asp33449Asn | |
| XM_017004822.1:c.97387G>A (TTN) | XP_016860311.1:p.Asp32463Asn | |
| XM_017004823.1:c.79003G>A (TTN) | XP_016860312.1:p.Asp26335Asn | |
| XM_024453094.1:c.100498G>A (TTN) | XP_024308862.1:p.Asp33500Asn | |
| XM_024453095.1:c.100495G>A (TTN) | XP_024308863.1:p.Asp33499Asn | |
| XM_024453096.1:c.99928G>A (TTN) | XP_024308864.1:p.Asp33310Asn | |
| XM_024453097.1:c.97270G>A (TTN) | XP_024308865.1:p.Asp32424Asn | |
| XM_024453098.1:c.97189G>A (TTN) | XP_024308866.1:p.Asp32397Asn | |
| XM_024453099.1:c.78952G>A (TTN) | XP_024308867.1:p.Asp26318Asn | |
| XM_024453100.1:c.68806G>A (TTN) | XP_024308868.1:p.Asp22936Asn |