Linked Data
ClinVar Variation Id:
404947
ClinVar RCV Id:
RCV000464411
dbSNP Id:
rs1060500509
gnomAD v2:
2-179439130-C-T
gnomAD v3:
2-178574403-C-T
gnomAD v4:
2-178574403-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178574403C>T , CM000664.2:g.178574403C>T | GRCh38 |
| NC_000002.11:g.179439130C>T , CM000664.1:g.179439130C>T | GRCh37 |
| NC_000002.10:g.179147376C>T | NCBI36 |
| NG_011618.3:g.261400G>A , LRG_391:g.261400G>A | |
| NG_051363.1:g.56577C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64025G>A (TTN) | ENSP00000343764.6:p.Ser21342Asn | |
| ENST00000342175.11:c.45110G>A (TTN) | ENSP00000340554.6:p.Ser15037Asn | |
| ENST00000359218.10:c.44909G>A (TTN) | ENSP00000352154.5:p.Ser14970Asn | |
| ENST00000342175.10:c.45110G>A (TTN) | ENSP00000340554.6:p.Ser15037Asn | |
| ENST00000342992.10:c.64025G>A (TTN) | ENSP00000343764.6:p.Ser21342Asn | |
| ENST00000359218.9:c.44909G>A (TTN) | ENSP00000352154.5:p.Ser14970Asn | |
| ENST00000460472.6:c.44534G>A (TTN) | ENSP00000434586.1:p.Ser14845Asn | |
| ENST00000589042.5:c.71729G>A (TTN) MANE Select | ENSP00000467141.1:p.Ser23910Asn | |
| ENST00000591111.5:c.66806G>A (TTN) | ENSP00000465570.1:p.Ser22269Asn | |
| ENST00000615779.4:c.66806G>A (TTN) | ENSP00000483597.1:p.Ser22269Asn | |
| NM_001256850.1:c.66806G>A (TTN) | NP_001243779.1:p.Ser22269Asn | |
| NM_001267550.2:c.71729G>A (TTN) MANE Select | NP_001254479.2:p.Ser23910Asn | |
| NM_003319.4:c.44534G>A (TTN) | NP_003310.4:p.Ser14845Asn | |
| NM_133378.4:c.64025G>A (TTN) | NP_596869.4:p.Ser21342Asn | |
| NM_133432.3:c.44909G>A (TTN) | NP_597676.3:p.Ser14970Asn | |
| NM_133437.4:c.45110G>A (TTN) | NP_597681.4:p.Ser15037Asn | |
| NR_038271.1:n.596+2954C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-8169C>T (TTN-AS1) | ||
| XM_011511729.1:c.70826G>A (TTN) | XP_011510031.1:p.Ser23609Asn | |
| XM_011511730.1:c.44720G>A (TTN) | XP_011510032.1:p.Ser14907Asn | |
| XM_011511731.1:c.44579G>A (TTN) | XP_011510033.1:p.Ser14860Asn | |
| XM_017004819.1:c.70622G>A (TTN) | XP_016860308.1:p.Ser23541Asn | |
| XM_017004820.1:c.66020G>A (TTN) | XP_016860309.1:p.Ser22007Asn | |
| XM_017004821.1:c.66017G>A (TTN) | XP_016860310.1:p.Ser22006Asn | |
| XM_017004822.1:c.63059G>A (TTN) | XP_016860311.1:p.Ser21020Asn | |
| XM_017004823.1:c.44675G>A (TTN) | XP_016860312.1:p.Ser14892Asn | |
| XM_024453094.1:c.66170G>A (TTN) | XP_024308862.1:p.Ser22057Asn | |
| XM_024453095.1:c.66167G>A (TTN) | XP_024308863.1:p.Ser22056Asn | |
| XM_024453096.1:c.65600G>A (TTN) | XP_024308864.1:p.Ser21867Asn | |
| XM_024453097.1:c.62942G>A (TTN) | XP_024308865.1:p.Ser20981Asn | |
| XM_024453098.1:c.62861G>A (TTN) | XP_024308866.1:p.Ser20954Asn | |
| XM_024453099.1:c.44624G>A (TTN) | XP_024308867.1:p.Ser14875Asn | |
| XM_024453100.1:c.34478G>A (TTN) | XP_024308868.1:p.Ser11493Asn |