Linked Data
ClinVar Variation Id:
47202
ClinVar RCV Id:
RCV000040472
RCV000248175
RCV000475952
RCV001085677
RCV001130062
RCV001130063
RCV001130064
RCV001130065
RCV001135093
RCV001170811
dbSNP Id:
rs201285872
ExAC:
2:179451996 C / T
gnomAD v2:
2-179451996-C-T
gnomAD v3:
2-178587269-C-T
gnomAD v4:
2-178587269-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178587269C>T , CM000664.2:g.178587269C>T | GRCh38 |
| NC_000002.11:g.179451996C>T , CM000664.1:g.179451996C>T | GRCh37 |
| NC_000002.10:g.179160242C>T | NCBI36 |
| NG_011618.3:g.248534G>A , LRG_391:g.248534G>A | |
| NG_051363.1:g.69443C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56238G>A (TTN) | ENSP00000343764.6:p.Ser18746= | |
| ENST00000342175.11:c.37323G>A (TTN) | ENSP00000340554.6:p.Ser12441= | |
| ENST00000359218.10:c.37122G>A (TTN) | ENSP00000352154.5:p.Ser12374= | |
| ENST00000342175.10:c.37323G>A (TTN) | ENSP00000340554.6:p.Ser12441= | |
| ENST00000342992.10:c.56238G>A (TTN) | ENSP00000343764.6:p.Ser18746= | |
| ENST00000359218.9:c.37122G>A (TTN) | ENSP00000352154.5:p.Ser12374= | |
| ENST00000460472.6:c.36747G>A (TTN) | ENSP00000434586.1:p.Ser12249= | |
| ENST00000589042.5:c.63942G>A (TTN) MANE Select | ENSP00000467141.1:p.Ser21314= | |
| ENST00000591111.5:c.59019G>A (TTN) | ENSP00000465570.1:p.Ser19673= | |
| ENST00000615779.4:c.59019G>A (TTN) | ENSP00000483597.1:p.Ser19673= | |
| NM_001256850.1:c.59019G>A (TTN) | NP_001243779.1:p.Ser19673= | |
| NM_001267550.2:c.63942G>A (TTN) MANE Select | NP_001254479.2:p.Ser21314= | |
| NM_003319.4:c.36747G>A (TTN) | NP_003310.4:p.Ser12249= | |
| NM_133378.4:c.56238G>A (TTN) | NP_596869.4:p.Ser18746= | |
| NM_133432.3:c.37122G>A (TTN) | NP_597676.3:p.Ser12374= | |
| NM_133437.4:c.37323G>A (TTN) | NP_597681.4:p.Ser12441= | |
| NR_038271.1:n.597-10327C>T (TTN-AS1) | ||
| NR_038272.1:n.3188+2276C>T (TTN-AS1) | ||
| XM_011511729.1:c.63039G>A (TTN) | XP_011510031.1:p.Ser21013= | |
| XM_011511730.1:c.36933G>A (TTN) | XP_011510032.1:p.Ser12311= | |
| XM_011511731.1:c.36792G>A (TTN) | XP_011510033.1:p.Ser12264= | |
| XM_017004819.1:c.62835G>A (TTN) | XP_016860308.1:p.Ser20945= | |
| XM_017004820.1:c.58233G>A (TTN) | XP_016860309.1:p.Ser19411= | |
| XM_017004821.1:c.58230G>A (TTN) | XP_016860310.1:p.Ser19410= | |
| XM_017004822.1:c.55272G>A (TTN) | XP_016860311.1:p.Ser18424= | |
| XM_017004823.1:c.36888G>A (TTN) | XP_016860312.1:p.Ser12296= | |
| XM_024453094.1:c.58383G>A (TTN) | XP_024308862.1:p.Ser19461= | |
| XM_024453095.1:c.58380G>A (TTN) | XP_024308863.1:p.Ser19460= | |
| XM_024453096.1:c.57813G>A (TTN) | XP_024308864.1:p.Ser19271= | |
| XM_024453097.1:c.55155G>A (TTN) | XP_024308865.1:p.Ser18385= | |
| XM_024453098.1:c.55074G>A (TTN) | XP_024308866.1:p.Ser18358= | |
| XM_024453099.1:c.36837G>A (TTN) | XP_024308867.1:p.Ser12279= | |
| XM_024453100.1:c.26691G>A (TTN) | XP_024308868.1:p.Ser8897= |