Linked Data
ClinVar Variation Id:
220680
dbSNP Id:
rs375676529
ExAC:
2:179444320 C / T
gnomAD v2:
2-179444320-C-T
gnomAD v3:
2-178579593-C-T
gnomAD v4:
2-178579593-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178579593C>T , CM000664.2:g.178579593C>T | GRCh38 |
| NC_000002.11:g.179444320C>T , CM000664.1:g.179444320C>T | GRCh37 |
| NC_000002.10:g.179152566C>T | NCBI36 |
| NG_011618.3:g.256210G>A , LRG_391:g.256210G>A | |
| NG_051363.1:g.61767C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.59900G>A (TTN) | ENSP00000343764.6:p.Ser19967Asn | |
| ENST00000342175.11:c.40985G>A (TTN) | ENSP00000340554.6:p.Ser13662Asn | |
| ENST00000359218.10:c.40784G>A (TTN) | ENSP00000352154.5:p.Ser13595Asn | |
| ENST00000342175.10:c.40985G>A (TTN) | ENSP00000340554.6:p.Ser13662Asn | |
| ENST00000342992.10:c.59900G>A (TTN) | ENSP00000343764.6:p.Ser19967Asn | |
| ENST00000359218.9:c.40784G>A (TTN) | ENSP00000352154.5:p.Ser13595Asn | |
| ENST00000460472.6:c.40409G>A (TTN) | ENSP00000434586.1:p.Ser13470Asn | |
| ENST00000589042.5:c.67604G>A (TTN) MANE Select | ENSP00000467141.1:p.Ser22535Asn | |
| ENST00000591111.5:c.62681G>A (TTN) | ENSP00000465570.1:p.Ser20894Asn | |
| ENST00000615779.4:c.62681G>A (TTN) | ENSP00000483597.1:p.Ser20894Asn | |
| NM_001256850.1:c.62681G>A (TTN) | NP_001243779.1:p.Ser20894Asn | |
| NM_001267550.2:c.67604G>A (TTN) MANE Select | NP_001254479.2:p.Ser22535Asn | |
| NM_003319.4:c.40409G>A (TTN) | NP_003310.4:p.Ser13470Asn | |
| NM_133378.4:c.59900G>A (TTN) | NP_596869.4:p.Ser19967Asn | |
| NM_133432.3:c.40784G>A (TTN) | NP_597676.3:p.Ser13595Asn | |
| NM_133437.4:c.40985G>A (TTN) | NP_597681.4:p.Ser13662Asn | |
| NR_038271.1:n.596+8144C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-2979C>T (TTN-AS1) | ||
| XM_011511729.1:c.66701G>A (TTN) | XP_011510031.1:p.Ser22234Asn | |
| XM_011511730.1:c.40595G>A (TTN) | XP_011510032.1:p.Ser13532Asn | |
| XM_011511731.1:c.40454G>A (TTN) | XP_011510033.1:p.Ser13485Asn | |
| XM_017004819.1:c.66497G>A (TTN) | XP_016860308.1:p.Ser22166Asn | |
| XM_017004820.1:c.61895G>A (TTN) | XP_016860309.1:p.Ser20632Asn | |
| XM_017004821.1:c.61892G>A (TTN) | XP_016860310.1:p.Ser20631Asn | |
| XM_017004822.1:c.58934G>A (TTN) | XP_016860311.1:p.Ser19645Asn | |
| XM_017004823.1:c.40550G>A (TTN) | XP_016860312.1:p.Ser13517Asn | |
| XM_024453094.1:c.62045G>A (TTN) | XP_024308862.1:p.Ser20682Asn | |
| XM_024453095.1:c.62042G>A (TTN) | XP_024308863.1:p.Ser20681Asn | |
| XM_024453096.1:c.61475G>A (TTN) | XP_024308864.1:p.Ser20492Asn | |
| XM_024453097.1:c.58817G>A (TTN) | XP_024308865.1:p.Ser19606Asn | |
| XM_024453098.1:c.58736G>A (TTN) | XP_024308866.1:p.Ser19579Asn | |
| XM_024453099.1:c.40499G>A (TTN) | XP_024308867.1:p.Ser13500Asn | |
| XM_024453100.1:c.30353G>A (TTN) | XP_024308868.1:p.Ser10118Asn |