Linked Data
ClinVar Variation Id:
467599
dbSNP Id:
rs767890385
ExAC:
2:179421769 A / G
gnomAD v2:
2-179421769-A-G
gnomAD v3:
2-178557042-A-G
gnomAD v4:
2-178557042-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557042A>G , CM000664.2:g.178557042A>G | GRCh38 |
| NC_000002.11:g.179421769A>G , CM000664.1:g.179421769A>G | GRCh37 |
| NC_000002.10:g.179130015A>G | NCBI36 |
| NG_011618.3:g.278761T>C , LRG_391:g.278761T>C | |
| NG_051363.1:g.39216A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80408T>C (TTN) | ENSP00000343764.6:p.Ile26803Thr | |
| ENST00000342175.11:c.61493T>C (TTN) | ENSP00000340554.6:p.Ile20498Thr | |
| ENST00000359218.10:c.61292T>C (TTN) | ENSP00000352154.5:p.Ile20431Thr | |
| ENST00000342175.10:c.61493T>C (TTN) | ENSP00000340554.6:p.Ile20498Thr | |
| ENST00000342992.10:c.80408T>C (TTN) | ENSP00000343764.6:p.Ile26803Thr | |
| ENST00000359218.9:c.61292T>C (TTN) | ENSP00000352154.5:p.Ile20431Thr | |
| ENST00000460472.6:c.60917T>C (TTN) | ENSP00000434586.1:p.Ile20306Thr | |
| ENST00000589042.5:c.88112T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile29371Thr | |
| ENST00000591111.5:c.83189T>C (TTN) | ENSP00000465570.1:p.Ile27730Thr | |
| ENST00000615779.4:c.83189T>C (TTN) | ENSP00000483597.1:p.Ile27730Thr | |
| NM_001256850.1:c.83189T>C (TTN) | NP_001243779.1:p.Ile27730Thr | |
| NM_001267550.2:c.88112T>C (TTN) MANE Select | NP_001254479.2:p.Ile29371Thr | |
| NM_003319.4:c.60917T>C (TTN) | NP_003310.4:p.Ile20306Thr | |
| NM_133378.4:c.80408T>C (TTN) | NP_596869.4:p.Ile26803Thr | |
| NM_133432.3:c.61292T>C (TTN) | NP_597676.3:p.Ile20431Thr | |
| NM_133437.4:c.61493T>C (TTN) | NP_597681.4:p.Ile20498Thr | |
| NR_038271.1:n.447-14258A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+14681A>G (TTN-AS1) | ||
| XM_011511729.1:c.87209T>C (TTN) | XP_011510031.1:p.Ile29070Thr | |
| XM_011511730.1:c.61103T>C (TTN) | XP_011510032.1:p.Ile20368Thr | |
| XM_011511731.1:c.60962T>C (TTN) | XP_011510033.1:p.Ile20321Thr | |
| XM_017004819.1:c.87005T>C (TTN) | XP_016860308.1:p.Ile29002Thr | |
| XM_017004820.1:c.82403T>C (TTN) | XP_016860309.1:p.Ile27468Thr | |
| XM_017004821.1:c.82400T>C (TTN) | XP_016860310.1:p.Ile27467Thr | |
| XM_017004822.1:c.79442T>C (TTN) | XP_016860311.1:p.Ile26481Thr | |
| XM_017004823.1:c.61058T>C (TTN) | XP_016860312.1:p.Ile20353Thr | |
| XM_024453094.1:c.82553T>C (TTN) | XP_024308862.1:p.Ile27518Thr | |
| XM_024453095.1:c.82550T>C (TTN) | XP_024308863.1:p.Ile27517Thr | |
| XM_024453096.1:c.81983T>C (TTN) | XP_024308864.1:p.Ile27328Thr | |
| XM_024453097.1:c.79325T>C (TTN) | XP_024308865.1:p.Ile26442Thr | |
| XM_024453098.1:c.79244T>C (TTN) | XP_024308866.1:p.Ile26415Thr | |
| XM_024453099.1:c.61007T>C (TTN) | XP_024308867.1:p.Ile20336Thr | |
| XM_024453100.1:c.50861T>C (TTN) | XP_024308868.1:p.Ile16954Thr |