Linked Data
ClinVar Variation Id:
47286
ClinVar RCV Id:
RCV000040556
RCV000184775
RCV000544602
RCV001130762
RCV001130763
RCV001130764
RCV001133729
RCV001133730
RCV002326752
dbSNP Id:
rs370771532
ExAC:
2:179440367 C / T
gnomAD v2:
2-179440367-C-T
gnomAD v3:
2-178575640-C-T
gnomAD v4:
2-178575640-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575640C>T , CM000664.2:g.178575640C>T | GRCh38 |
| NC_000002.11:g.179440367C>T , CM000664.1:g.179440367C>T | GRCh37 |
| NC_000002.10:g.179148613C>T | NCBI36 |
| NG_011618.3:g.260163G>A , LRG_391:g.260163G>A | |
| NG_051363.1:g.57814C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62788G>A (TTN) | ENSP00000343764.6:p.Gly20930Ser | |
| ENST00000342175.11:c.43873G>A (TTN) | ENSP00000340554.6:p.Gly14625Ser | |
| ENST00000359218.10:c.43672G>A (TTN) | ENSP00000352154.5:p.Gly14558Ser | |
| ENST00000342175.10:c.43873G>A (TTN) | ENSP00000340554.6:p.Gly14625Ser | |
| ENST00000342992.10:c.62788G>A (TTN) | ENSP00000343764.6:p.Gly20930Ser | |
| ENST00000359218.9:c.43672G>A (TTN) | ENSP00000352154.5:p.Gly14558Ser | |
| ENST00000460472.6:c.43297G>A (TTN) | ENSP00000434586.1:p.Gly14433Ser | |
| ENST00000589042.5:c.70492G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly23498Ser | |
| ENST00000591111.5:c.65569G>A (TTN) | ENSP00000465570.1:p.Gly21857Ser | |
| ENST00000615779.4:c.65569G>A (TTN) | ENSP00000483597.1:p.Gly21857Ser | |
| NM_001256850.1:c.65569G>A (TTN) | NP_001243779.1:p.Gly21857Ser | |
| NM_001267550.2:c.70492G>A (TTN) MANE Select | NP_001254479.2:p.Gly23498Ser | |
| NM_003319.4:c.43297G>A (TTN) | NP_003310.4:p.Gly14433Ser | |
| NM_133378.4:c.62788G>A (TTN) | NP_596869.4:p.Gly20930Ser | |
| NM_133432.3:c.43672G>A (TTN) | NP_597676.3:p.Gly14558Ser | |
| NM_133437.4:c.43873G>A (TTN) | NP_597681.4:p.Gly14625Ser | |
| NR_038271.1:n.596+4191C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-6932C>T (TTN-AS1) | ||
| XM_011511729.1:c.69589G>A (TTN) | XP_011510031.1:p.Gly23197Ser | |
| XM_011511730.1:c.43483G>A (TTN) | XP_011510032.1:p.Gly14495Ser | |
| XM_011511731.1:c.43342G>A (TTN) | XP_011510033.1:p.Gly14448Ser | |
| XM_017004819.1:c.69385G>A (TTN) | XP_016860308.1:p.Gly23129Ser | |
| XM_017004820.1:c.64783G>A (TTN) | XP_016860309.1:p.Gly21595Ser | |
| XM_017004821.1:c.64780G>A (TTN) | XP_016860310.1:p.Gly21594Ser | |
| XM_017004822.1:c.61822G>A (TTN) | XP_016860311.1:p.Gly20608Ser | |
| XM_017004823.1:c.43438G>A (TTN) | XP_016860312.1:p.Gly14480Ser | |
| XM_024453094.1:c.64933G>A (TTN) | XP_024308862.1:p.Gly21645Ser | |
| XM_024453095.1:c.64930G>A (TTN) | XP_024308863.1:p.Gly21644Ser | |
| XM_024453096.1:c.64363G>A (TTN) | XP_024308864.1:p.Gly21455Ser | |
| XM_024453097.1:c.61705G>A (TTN) | XP_024308865.1:p.Gly20569Ser | |
| XM_024453098.1:c.61624G>A (TTN) | XP_024308866.1:p.Gly20542Ser | |
| XM_024453099.1:c.43387G>A (TTN) | XP_024308867.1:p.Gly14463Ser | |
| XM_024453100.1:c.33241G>A (TTN) | XP_024308868.1:p.Gly11081Ser |