Linked Data
ClinVar Variation Id:
47276
ClinVar RCV Id:
RCV000040546
RCV000228575
RCV000246133
RCV000288739
RCV000343753
RCV000378581
RCV000349248
RCV000404030
RCV000768946
RCV000852816
RCV002496648
RCV001528766
dbSNP Id:
rs115658240
ExAC:
2:179441119 G / A
gnomAD v2:
2-179441119-G-A
gnomAD v3:
2-178576392-G-A
gnomAD v4:
2-178576392-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178576392G>A , CM000664.2:g.178576392G>A | GRCh38 |
| NC_000002.11:g.179441119G>A , CM000664.1:g.179441119G>A | GRCh37 |
| NC_000002.10:g.179149365G>A | NCBI36 |
| NG_011618.3:g.259411C>T , LRG_391:g.259411C>T | |
| NG_051363.1:g.58566G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62036C>T (TTN) | ENSP00000343764.6:p.Pro20679Leu | |
| ENST00000342175.11:c.43121C>T (TTN) | ENSP00000340554.6:p.Pro14374Leu | |
| ENST00000359218.10:c.42920C>T (TTN) | ENSP00000352154.5:p.Pro14307Leu | |
| ENST00000342175.10:c.43121C>T (TTN) | ENSP00000340554.6:p.Pro14374Leu | |
| ENST00000342992.10:c.62036C>T (TTN) | ENSP00000343764.6:p.Pro20679Leu | |
| ENST00000359218.9:c.42920C>T (TTN) | ENSP00000352154.5:p.Pro14307Leu | |
| ENST00000460472.6:c.42545C>T (TTN) | ENSP00000434586.1:p.Pro14182Leu | |
| ENST00000589042.5:c.69740C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro23247Leu | |
| ENST00000591111.5:c.64817C>T (TTN) | ENSP00000465570.1:p.Pro21606Leu | |
| ENST00000615779.4:c.64817C>T (TTN) | ENSP00000483597.1:p.Pro21606Leu | |
| NM_001256850.1:c.64817C>T (TTN) | NP_001243779.1:p.Pro21606Leu | |
| NM_001267550.2:c.69740C>T (TTN) MANE Select | NP_001254479.2:p.Pro23247Leu | |
| NM_003319.4:c.42545C>T (TTN) | NP_003310.4:p.Pro14182Leu | |
| NM_133378.4:c.62036C>T (TTN) | NP_596869.4:p.Pro20679Leu | |
| NM_133432.3:c.42920C>T (TTN) | NP_597676.3:p.Pro14307Leu | |
| NM_133437.4:c.43121C>T (TTN) | NP_597681.4:p.Pro14374Leu | |
| NR_038271.1:n.596+4943G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-6180G>A (TTN-AS1) | ||
| XM_011511729.1:c.68837C>T (TTN) | XP_011510031.1:p.Pro22946Leu | |
| XM_011511730.1:c.42731C>T (TTN) | XP_011510032.1:p.Pro14244Leu | |
| XM_011511731.1:c.42590C>T (TTN) | XP_011510033.1:p.Pro14197Leu | |
| XM_017004819.1:c.68633C>T (TTN) | XP_016860308.1:p.Pro22878Leu | |
| XM_017004820.1:c.64031C>T (TTN) | XP_016860309.1:p.Pro21344Leu | |
| XM_017004821.1:c.64028C>T (TTN) | XP_016860310.1:p.Pro21343Leu | |
| XM_017004822.1:c.61070C>T (TTN) | XP_016860311.1:p.Pro20357Leu | |
| XM_017004823.1:c.42686C>T (TTN) | XP_016860312.1:p.Pro14229Leu | |
| XM_024453094.1:c.64181C>T (TTN) | XP_024308862.1:p.Pro21394Leu | |
| XM_024453095.1:c.64178C>T (TTN) | XP_024308863.1:p.Pro21393Leu | |
| XM_024453096.1:c.63611C>T (TTN) | XP_024308864.1:p.Pro21204Leu | |
| XM_024453097.1:c.60953C>T (TTN) | XP_024308865.1:p.Pro20318Leu | |
| XM_024453098.1:c.60872C>T (TTN) | XP_024308866.1:p.Pro20291Leu | |
| XM_024453099.1:c.42635C>T (TTN) | XP_024308867.1:p.Pro14212Leu | |
| XM_024453100.1:c.32489C>T (TTN) | XP_024308868.1:p.Pro10830Leu |