Linked Data
ClinVar Variation Id:
47514
ClinVar RCV Id:
RCV000040783
RCV000082447
RCV000621123
RCV000852791
RCV001082275
RCV001130053
RCV001135074
RCV001135075
RCV001135076
RCV001135077
RCV001798197
dbSNP Id:
rs148617456
ExAC:
2:179414800 C / T
gnomAD v2:
2-179414800-C-T
gnomAD v3:
2-178550073-C-T
gnomAD v4:
2-178550073-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178550073C>T , CM000664.2:g.178550073C>T | GRCh38 |
| NC_000002.11:g.179414800C>T , CM000664.1:g.179414800C>T | GRCh37 |
| NC_000002.10:g.179123046C>T | NCBI36 |
| NG_011618.3:g.285730G>A , LRG_391:g.285730G>A | |
| NG_051363.1:g.32247C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84061G>A (TTN) | ENSP00000343764.6:p.Ala28021Thr | |
| ENST00000342175.11:c.65146G>A (TTN) | ENSP00000340554.6:p.Ala21716Thr | |
| ENST00000359218.10:c.64945G>A (TTN) | ENSP00000352154.5:p.Ala21649Thr | |
| ENST00000342175.10:c.65146G>A (TTN) | ENSP00000340554.6:p.Ala21716Thr | |
| ENST00000342992.10:c.84061G>A (TTN) | ENSP00000343764.6:p.Ala28021Thr | |
| ENST00000359218.9:c.64945G>A (TTN) | ENSP00000352154.5:p.Ala21649Thr | |
| ENST00000460472.6:c.64570G>A (TTN) | ENSP00000434586.1:p.Ala21524Thr | |
| ENST00000589042.5:c.91765G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala30589Thr | |
| ENST00000591111.5:c.86842G>A (TTN) | ENSP00000465570.1:p.Ala28948Thr | |
| ENST00000615779.4:c.86842G>A (TTN) | ENSP00000483597.1:p.Ala28948Thr | |
| NM_001256850.1:c.86842G>A (TTN) | NP_001243779.1:p.Ala28948Thr | |
| NM_001267550.2:c.91765G>A (TTN) MANE Select | NP_001254479.2:p.Ala30589Thr | |
| NM_003319.4:c.64570G>A (TTN) | NP_003310.4:p.Ala21524Thr | |
| NM_133378.4:c.84061G>A (TTN) | NP_596869.4:p.Ala28021Thr | |
| NM_133432.3:c.64945G>A (TTN) | NP_597676.3:p.Ala21649Thr | |
| NM_133437.4:c.65146G>A (TTN) | NP_597681.4:p.Ala21716Thr | |
| NR_038271.1:n.447-21227C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+7712C>T (TTN-AS1) | ||
| XM_011511729.1:c.90862G>A (TTN) | XP_011510031.1:p.Ala30288Thr | |
| XM_011511730.1:c.64756G>A (TTN) | XP_011510032.1:p.Ala21586Thr | |
| XM_011511731.1:c.64615G>A (TTN) | XP_011510033.1:p.Ala21539Thr | |
| XM_017004819.1:c.90658G>A (TTN) | XP_016860308.1:p.Ala30220Thr | |
| XM_017004820.1:c.86056G>A (TTN) | XP_016860309.1:p.Ala28686Thr | |
| XM_017004821.1:c.86053G>A (TTN) | XP_016860310.1:p.Ala28685Thr | |
| XM_017004822.1:c.83095G>A (TTN) | XP_016860311.1:p.Ala27699Thr | |
| XM_017004823.1:c.64711G>A (TTN) | XP_016860312.1:p.Ala21571Thr | |
| XM_024453094.1:c.86206G>A (TTN) | XP_024308862.1:p.Ala28736Thr | |
| XM_024453095.1:c.86203G>A (TTN) | XP_024308863.1:p.Ala28735Thr | |
| XM_024453096.1:c.85636G>A (TTN) | XP_024308864.1:p.Ala28546Thr | |
| XM_024453097.1:c.82978G>A (TTN) | XP_024308865.1:p.Ala27660Thr | |
| XM_024453098.1:c.82897G>A (TTN) | XP_024308866.1:p.Ala27633Thr | |
| XM_024453099.1:c.64660G>A (TTN) | XP_024308867.1:p.Ala21554Thr | |
| XM_024453100.1:c.54514G>A (TTN) | XP_024308868.1:p.Ala18172Thr |