Linked Data
ClinVar Variation Id:
179042
ClinVar RCV Id:
RCV000155826
RCV000176704
RCV000336590
RCV000372440
RCV000281491
RCV000252082
RCV000284877
RCV000375751
RCV001293077
RCV001081539
RCV001170584
RCV004535001
dbSNP Id:
rs146941600
ExAC:
2:179447801 A / G
gnomAD v2:
2-179447801-A-G
gnomAD v3:
2-178583074-A-G
gnomAD v4:
2-178583074-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178583074A>G , CM000664.2:g.178583074A>G | GRCh38 |
| NC_000002.11:g.179447801A>G , CM000664.1:g.179447801A>G | GRCh37 |
| NC_000002.10:g.179156047A>G | NCBI36 |
| NG_011618.3:g.252729T>C , LRG_391:g.252729T>C | |
| NG_051363.1:g.65248A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58025T>C (TTN) | ENSP00000343764.6:p.Ile19342Thr | |
| ENST00000342175.11:c.39110T>C (TTN) | ENSP00000340554.6:p.Ile13037Thr | |
| ENST00000359218.10:c.38909T>C (TTN) | ENSP00000352154.5:p.Ile12970Thr | |
| ENST00000342175.10:c.39110T>C (TTN) | ENSP00000340554.6:p.Ile13037Thr | |
| ENST00000342992.10:c.58025T>C (TTN) | ENSP00000343764.6:p.Ile19342Thr | |
| ENST00000359218.9:c.38909T>C (TTN) | ENSP00000352154.5:p.Ile12970Thr | |
| ENST00000460472.6:c.38534T>C (TTN) | ENSP00000434586.1:p.Ile12845Thr | |
| ENST00000589042.5:c.65729T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile21910Thr | |
| ENST00000591111.5:c.60806T>C (TTN) | ENSP00000465570.1:p.Ile20269Thr | |
| ENST00000615779.4:c.60806T>C (TTN) | ENSP00000483597.1:p.Ile20269Thr | |
| NM_001256850.1:c.60806T>C (TTN) | NP_001243779.1:p.Ile20269Thr | |
| NM_001267550.2:c.65729T>C (TTN) MANE Select | NP_001254479.2:p.Ile21910Thr | |
| NM_003319.4:c.38534T>C (TTN) | NP_003310.4:p.Ile12845Thr | |
| NM_133378.4:c.58025T>C (TTN) | NP_596869.4:p.Ile19342Thr | |
| NM_133432.3:c.38909T>C (TTN) | NP_597676.3:p.Ile12970Thr | |
| NM_133437.4:c.39110T>C (TTN) | NP_597681.4:p.Ile13037Thr | |
| NR_038271.1:n.596+11625A>G (TTN-AS1) | ||
| NR_038272.1:n.2262A>G (TTN-AS1) | ||
| XM_011511729.1:c.64826T>C (TTN) | XP_011510031.1:p.Ile21609Thr | |
| XM_011511730.1:c.38720T>C (TTN) | XP_011510032.1:p.Ile12907Thr | |
| XM_011511731.1:c.38579T>C (TTN) | XP_011510033.1:p.Ile12860Thr | |
| XM_017004819.1:c.64622T>C (TTN) | XP_016860308.1:p.Ile21541Thr | |
| XM_017004820.1:c.60020T>C (TTN) | XP_016860309.1:p.Ile20007Thr | |
| XM_017004821.1:c.60017T>C (TTN) | XP_016860310.1:p.Ile20006Thr | |
| XM_017004822.1:c.57059T>C (TTN) | XP_016860311.1:p.Ile19020Thr | |
| XM_017004823.1:c.38675T>C (TTN) | XP_016860312.1:p.Ile12892Thr | |
| XM_024453094.1:c.60170T>C (TTN) | XP_024308862.1:p.Ile20057Thr | |
| XM_024453095.1:c.60167T>C (TTN) | XP_024308863.1:p.Ile20056Thr | |
| XM_024453096.1:c.59600T>C (TTN) | XP_024308864.1:p.Ile19867Thr | |
| XM_024453097.1:c.56942T>C (TTN) | XP_024308865.1:p.Ile18981Thr | |
| XM_024453098.1:c.56861T>C (TTN) | XP_024308866.1:p.Ile18954Thr | |
| XM_024453099.1:c.38624T>C (TTN) | XP_024308867.1:p.Ile12875Thr | |
| XM_024453100.1:c.28478T>C (TTN) | XP_024308868.1:p.Ile9493Thr |