Linked Data
ClinVar Variation Id:
332856
ClinVar RCV Id:
RCV000269951
RCV000273542
RCV000314523
RCV000325000
RCV000385186
RCV000842277
RCV001437186
RCV002418195
dbSNP Id:
rs760251812
ExAC:
2:179483393 C / T
gnomAD v2:
2-179483393-C-T
gnomAD v3:
2-178618666-C-T
gnomAD v4:
2-178618666-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178618666C>T , CM000664.2:g.178618666C>T | GRCh38 |
| NC_000002.11:g.179483393C>T , CM000664.1:g.179483393C>T | GRCh37 |
| NC_000002.10:g.179191638C>T | NCBI36 |
| NG_011618.3:g.217137G>A , LRG_391:g.217137G>A | |
| NG_051363.1:g.100840C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39180G>A (TTN) | ENSP00000343764.6:p.Lys13060= | |
| ENST00000342175.11:c.20265G>A (TTN) | ENSP00000340554.6:p.Lys6755= | |
| ENST00000359218.10:c.20064G>A (TTN) | ENSP00000352154.5:p.Lys6688= | |
| ENST00000342175.10:c.20265G>A (TTN) | ENSP00000340554.6:p.Lys6755= | |
| ENST00000342992.10:c.39180G>A (TTN) | ENSP00000343764.6:p.Lys13060= | |
| ENST00000359218.9:c.20064G>A (TTN) | ENSP00000352154.5:p.Lys6688= | |
| ENST00000460472.6:c.19689G>A (TTN) | ENSP00000434586.1:p.Lys6563= | |
| ENST00000589042.5:c.46884G>A (TTN) MANE Select | ENSP00000467141.1:p.Lys15628= | |
| ENST00000591111.5:c.41961G>A (TTN) | ENSP00000465570.1:p.Lys13987= | |
| ENST00000615779.4:c.41961G>A (TTN) | ENSP00000483597.1:p.Lys13987= | |
| NM_001256850.1:c.41961G>A (TTN) | NP_001243779.1:p.Lys13987= | |
| NM_001267550.2:c.46884G>A (TTN) MANE Select | NP_001254479.2:p.Lys15628= | |
| NM_003319.4:c.19689G>A (TTN) | NP_003310.4:p.Lys6563= | |
| NM_133378.4:c.39180G>A (TTN) | NP_596869.4:p.Lys13060= | |
| NM_133432.3:c.20064G>A (TTN) | NP_597676.3:p.Lys6688= | |
| NM_133437.4:c.20265G>A (TTN) | NP_597681.4:p.Lys6755= | |
| NR_038271.1:n.1605-1087C>T (TTN-AS1) | ||
| XM_011511729.1:c.45981G>A (TTN) | XP_011510031.1:p.Lys15327= | |
| XM_011511730.1:c.19875G>A (TTN) | XP_011510032.1:p.Lys6625= | |
| XM_011511731.1:c.19734G>A (TTN) | XP_011510033.1:p.Lys6578= | |
| XM_017004819.1:c.45777G>A (TTN) | XP_016860308.1:p.Lys15259= | |
| XM_017004820.1:c.41175G>A (TTN) | XP_016860309.1:p.Lys13725= | |
| XM_017004821.1:c.41172G>A (TTN) | XP_016860310.1:p.Lys13724= | |
| XM_017004822.1:c.38214G>A (TTN) | XP_016860311.1:p.Lys12738= | |
| XM_017004823.1:c.19830G>A (TTN) | XP_016860312.1:p.Lys6610= | |
| XM_024453094.1:c.41325G>A (TTN) | XP_024308862.1:p.Lys13775= | |
| XM_024453095.1:c.41322G>A (TTN) | XP_024308863.1:p.Lys13774= | |
| XM_024453096.1:c.40755G>A (TTN) | XP_024308864.1:p.Lys13585= | |
| XM_024453097.1:c.38097G>A (TTN) | XP_024308865.1:p.Lys12699= | |
| XM_024453098.1:c.38016G>A (TTN) | XP_024308866.1:p.Lys12672= | |
| XM_024453099.1:c.19779G>A (TTN) | XP_024308867.1:p.Lys6593= | |
| XM_024453100.1:c.9633G>A (TTN) | XP_024308868.1:p.Lys3211= |