Linked Data
ClinVar Variation Id:
535557
dbSNP Id:
rs575070622
ExAC:
2:179394707 C / G
gnomAD v2:
2-179394707-C-G
gnomAD v3:
2-178529980-C-G
gnomAD v4:
2-178529980-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178529980C>G , CM000664.2:g.178529980C>G | GRCh38 |
| NC_000002.11:g.179394707C>G , CM000664.1:g.179394707C>G | GRCh37 |
| NC_000002.10:g.179102953C>G | NCBI36 |
| NG_011618.3:g.305823G>C , LRG_391:g.305823G>C | |
| NG_051363.1:g.12154C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98807G>C (TTN) | ENSP00000343764.6:p.Ser32936Thr | |
| ENST00000342175.11:c.79892G>C (TTN) | ENSP00000340554.6:p.Ser26631Thr | |
| ENST00000359218.10:c.79691G>C (TTN) | ENSP00000352154.5:p.Ser26564Thr | |
| ENST00000342175.10:c.79892G>C (TTN) | ENSP00000340554.6:p.Ser26631Thr | |
| ENST00000342992.10:c.98807G>C (TTN) | ENSP00000343764.6:p.Ser32936Thr | |
| ENST00000359218.9:c.79691G>C (TTN) | ENSP00000352154.5:p.Ser26564Thr | |
| ENST00000460472.6:c.79316G>C (TTN) | ENSP00000434586.1:p.Ser26439Thr | |
| ENST00000589042.5:c.106511G>C (TTN) MANE Select | ENSP00000467141.1:p.Ser35504Thr | |
| ENST00000591111.5:c.101588G>C (TTN) | ENSP00000465570.1:p.Ser33863Thr | |
| ENST00000615779.4:c.101588G>C (TTN) | ENSP00000483597.1:p.Ser33863Thr | |
| NM_001256850.1:c.101588G>C (TTN) | NP_001243779.1:p.Ser33863Thr | |
| NM_001267550.2:c.106511G>C (TTN) MANE Select | NP_001254479.2:p.Ser35504Thr | |
| NM_003319.4:c.79316G>C (TTN) | NP_003310.4:p.Ser26439Thr | |
| NM_133378.4:c.98807G>C (TTN) | NP_596869.4:p.Ser32936Thr | |
| NM_133432.3:c.79691G>C (TTN) | NP_597676.3:p.Ser26564Thr | |
| NM_133437.4:c.79892G>C (TTN) | NP_597681.4:p.Ser26631Thr | |
| NR_038271.1:n.446+6344C>G (TTN-AS1) | ||
| NR_038272.1:n.220-5752C>G (TTN-AS1) | ||
| XM_011511729.1:c.105608G>C (TTN) | XP_011510031.1:p.Ser35203Thr | |
| XM_011511730.1:c.79502G>C (TTN) | XP_011510032.1:p.Ser26501Thr | |
| XM_011511731.1:c.79361G>C (TTN) | XP_011510033.1:p.Ser26454Thr | |
| XM_017004819.1:c.105404G>C (TTN) | XP_016860308.1:p.Ser35135Thr | |
| XM_017004820.1:c.100802G>C (TTN) | XP_016860309.1:p.Ser33601Thr | |
| XM_017004821.1:c.100799G>C (TTN) | XP_016860310.1:p.Ser33600Thr | |
| XM_017004822.1:c.97841G>C (TTN) | XP_016860311.1:p.Ser32614Thr | |
| XM_017004823.1:c.79457G>C (TTN) | XP_016860312.1:p.Ser26486Thr | |
| XM_024453094.1:c.100952G>C (TTN) | XP_024308862.1:p.Ser33651Thr | |
| XM_024453095.1:c.100949G>C (TTN) | XP_024308863.1:p.Ser33650Thr | |
| XM_024453096.1:c.100382G>C (TTN) | XP_024308864.1:p.Ser33461Thr | |
| XM_024453097.1:c.97724G>C (TTN) | XP_024308865.1:p.Ser32575Thr | |
| XM_024453098.1:c.97643G>C (TTN) | XP_024308866.1:p.Ser32548Thr | |
| XM_024453099.1:c.79406G>C (TTN) | XP_024308867.1:p.Ser26469Thr | |
| XM_024453100.1:c.69260G>C (TTN) | XP_024308868.1:p.Ser23087Thr |