Linked Data
ClinVar Variation Id:
332815
dbSNP Id:
rs376338324
ExAC:
2:179453843 T / G
gnomAD v2:
2-179453843-T-G
gnomAD v3:
2-178589116-T-G
gnomAD v4:
2-178589116-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589116T>G , CM000664.2:g.178589116T>G | GRCh38 |
| NC_000002.11:g.179453843T>G , CM000664.1:g.179453843T>G | GRCh37 |
| NC_000002.10:g.179162089T>G | NCBI36 |
| NG_011618.3:g.246687A>C , LRG_391:g.246687A>C | |
| NG_051363.1:g.71290T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.54905A>C (TTN) | ENSP00000343764.6:p.Asn18302Thr | |
| ENST00000342175.11:c.35990A>C (TTN) | ENSP00000340554.6:p.Asn11997Thr | |
| ENST00000359218.10:c.35789A>C (TTN) | ENSP00000352154.5:p.Asn11930Thr | |
| ENST00000342175.10:c.35990A>C (TTN) | ENSP00000340554.6:p.Asn11997Thr | |
| ENST00000342992.10:c.54905A>C (TTN) | ENSP00000343764.6:p.Asn18302Thr | |
| ENST00000359218.9:c.35789A>C (TTN) | ENSP00000352154.5:p.Asn11930Thr | |
| ENST00000460472.6:c.35414A>C (TTN) | ENSP00000434586.1:p.Asn11805Thr | |
| ENST00000589042.5:c.62609A>C (TTN) MANE Select | ENSP00000467141.1:p.Asn20870Thr | |
| ENST00000591111.5:c.57686A>C (TTN) | ENSP00000465570.1:p.Asn19229Thr | |
| ENST00000615779.4:c.57686A>C (TTN) | ENSP00000483597.1:p.Asn19229Thr | |
| NM_001256850.1:c.57686A>C (TTN) | NP_001243779.1:p.Asn19229Thr | |
| NM_001267550.2:c.62609A>C (TTN) MANE Select | NP_001254479.2:p.Asn20870Thr | |
| NM_003319.4:c.35414A>C (TTN) | NP_003310.4:p.Asn11805Thr | |
| NM_133378.4:c.54905A>C (TTN) | NP_596869.4:p.Asn18302Thr | |
| NM_133432.3:c.35789A>C (TTN) | NP_597676.3:p.Asn11930Thr | |
| NM_133437.4:c.35990A>C (TTN) | NP_597681.4:p.Asn11997Thr | |
| NR_038271.1:n.597-8480T>G (TTN-AS1) | ||
| NR_038272.1:n.3189-2023T>G (TTN-AS1) | ||
| XM_011511729.1:c.61706A>C (TTN) | XP_011510031.1:p.Asn20569Thr | |
| XM_011511730.1:c.35600A>C (TTN) | XP_011510032.1:p.Asn11867Thr | |
| XM_011511731.1:c.35459A>C (TTN) | XP_011510033.1:p.Asn11820Thr | |
| XM_017004819.1:c.61502A>C (TTN) | XP_016860308.1:p.Asn20501Thr | |
| XM_017004820.1:c.56900A>C (TTN) | XP_016860309.1:p.Asn18967Thr | |
| XM_017004821.1:c.56897A>C (TTN) | XP_016860310.1:p.Asn18966Thr | |
| XM_017004822.1:c.53939A>C (TTN) | XP_016860311.1:p.Asn17980Thr | |
| XM_017004823.1:c.35555A>C (TTN) | XP_016860312.1:p.Asn11852Thr | |
| XM_024453094.1:c.57050A>C (TTN) | XP_024308862.1:p.Asn19017Thr | |
| XM_024453095.1:c.57047A>C (TTN) | XP_024308863.1:p.Asn19016Thr | |
| XM_024453096.1:c.56480A>C (TTN) | XP_024308864.1:p.Asn18827Thr | |
| XM_024453097.1:c.53822A>C (TTN) | XP_024308865.1:p.Asn17941Thr | |
| XM_024453098.1:c.53741A>C (TTN) | XP_024308866.1:p.Asn17914Thr | |
| XM_024453099.1:c.35504A>C (TTN) | XP_024308867.1:p.Asn11835Thr | |
| XM_024453100.1:c.25358A>C (TTN) | XP_024308868.1:p.Asn8453Thr |