Linked Data
ClinVar Variation Id:
47464
ClinVar RCV Id:
RCV000040733
RCV000172625
RCV000618830
RCV001086492
RCV001129292
RCV001129291
RCV001131993
RCV001131994
RCV001131995
RCV001293177
RCV001798189
RCV002227443
dbSNP Id:
rs72648227
ExAC:
2:179422669 G / T
gnomAD v2:
2-179422669-G-T
gnomAD v3:
2-178557942-G-T
gnomAD v4:
2-178557942-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557942G>T , CM000664.2:g.178557942G>T | GRCh38 |
| NC_000002.11:g.179422669G>T , CM000664.1:g.179422669G>T | GRCh37 |
| NC_000002.10:g.179130915G>T | NCBI36 |
| NG_011618.3:g.277861C>A , LRG_391:g.277861C>A | |
| NG_051363.1:g.40116G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79708C>A (TTN) | ENSP00000343764.6:p.Pro26570Thr | |
| ENST00000342175.11:c.60793C>A (TTN) | ENSP00000340554.6:p.Pro20265Thr | |
| ENST00000359218.10:c.60592C>A (TTN) | ENSP00000352154.5:p.Pro20198Thr | |
| ENST00000342175.10:c.60793C>A (TTN) | ENSP00000340554.6:p.Pro20265Thr | |
| ENST00000342992.10:c.79708C>A (TTN) | ENSP00000343764.6:p.Pro26570Thr | |
| ENST00000359218.9:c.60592C>A (TTN) | ENSP00000352154.5:p.Pro20198Thr | |
| ENST00000460472.6:c.60217C>A (TTN) | ENSP00000434586.1:p.Pro20073Thr | |
| ENST00000589042.5:c.87412C>A (TTN) MANE Select | ENSP00000467141.1:p.Pro29138Thr | |
| ENST00000591111.5:c.82489C>A (TTN) | ENSP00000465570.1:p.Pro27497Thr | |
| ENST00000615779.4:c.82489C>A (TTN) | ENSP00000483597.1:p.Pro27497Thr | |
| NM_001256850.1:c.82489C>A (TTN) | NP_001243779.1:p.Pro27497Thr | |
| NM_001267550.2:c.87412C>A (TTN) MANE Select | NP_001254479.2:p.Pro29138Thr | |
| NM_003319.4:c.60217C>A (TTN) | NP_003310.4:p.Pro20073Thr | |
| NM_133378.4:c.79708C>A (TTN) | NP_596869.4:p.Pro26570Thr | |
| NM_133432.3:c.60592C>A (TTN) | NP_597676.3:p.Pro20198Thr | |
| NM_133437.4:c.60793C>A (TTN) | NP_597681.4:p.Pro20265Thr | |
| NR_038271.1:n.447-13358G>T (TTN-AS1) | ||
| NR_038272.1:n.2043+15581G>T (TTN-AS1) | ||
| XM_011511729.1:c.86509C>A (TTN) | XP_011510031.1:p.Pro28837Thr | |
| XM_011511730.1:c.60403C>A (TTN) | XP_011510032.1:p.Pro20135Thr | |
| XM_011511731.1:c.60262C>A (TTN) | XP_011510033.1:p.Pro20088Thr | |
| XM_017004819.1:c.86305C>A (TTN) | XP_016860308.1:p.Pro28769Thr | |
| XM_017004820.1:c.81703C>A (TTN) | XP_016860309.1:p.Pro27235Thr | |
| XM_017004821.1:c.81700C>A (TTN) | XP_016860310.1:p.Pro27234Thr | |
| XM_017004822.1:c.78742C>A (TTN) | XP_016860311.1:p.Pro26248Thr | |
| XM_017004823.1:c.60358C>A (TTN) | XP_016860312.1:p.Pro20120Thr | |
| XM_024453094.1:c.81853C>A (TTN) | XP_024308862.1:p.Pro27285Thr | |
| XM_024453095.1:c.81850C>A (TTN) | XP_024308863.1:p.Pro27284Thr | |
| XM_024453096.1:c.81283C>A (TTN) | XP_024308864.1:p.Pro27095Thr | |
| XM_024453097.1:c.78625C>A (TTN) | XP_024308865.1:p.Pro26209Thr | |
| XM_024453098.1:c.78544C>A (TTN) | XP_024308866.1:p.Pro26182Thr | |
| XM_024453099.1:c.60307C>A (TTN) | XP_024308867.1:p.Pro20103Thr | |
| XM_024453100.1:c.50161C>A (TTN) | XP_024308868.1:p.Pro16721Thr |