Linked Data
ClinVar Variation Id:
284493
dbSNP Id:
rs886042885
gnomAD v2:
2-179411455-T-C
gnomAD v3:
2-178546728-T-C
gnomAD v4:
2-178546728-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546728T>C , CM000664.2:g.178546728T>C | GRCh38 |
| NC_000002.11:g.179411455T>C , CM000664.1:g.179411455T>C | GRCh37 |
| NC_000002.10:g.179119701T>C | NCBI36 |
| NG_011618.3:g.289075A>G , LRG_391:g.289075A>G | |
| NG_051363.1:g.28902T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86996A>G (TTN) | ENSP00000343764.6:p.Asn28999Ser | |
| ENST00000342175.11:c.68081A>G (TTN) | ENSP00000340554.6:p.Asn22694Ser | |
| ENST00000359218.10:c.67880A>G (TTN) | ENSP00000352154.5:p.Asn22627Ser | |
| ENST00000342175.10:c.68081A>G (TTN) | ENSP00000340554.6:p.Asn22694Ser | |
| ENST00000342992.10:c.86996A>G (TTN) | ENSP00000343764.6:p.Asn28999Ser | |
| ENST00000359218.9:c.67880A>G (TTN) | ENSP00000352154.5:p.Asn22627Ser | |
| ENST00000460472.6:c.67505A>G (TTN) | ENSP00000434586.1:p.Asn22502Ser | |
| ENST00000589042.5:c.94700A>G (TTN) MANE Select | ENSP00000467141.1:p.Asn31567Ser | |
| ENST00000591111.5:c.89777A>G (TTN) | ENSP00000465570.1:p.Asn29926Ser | |
| ENST00000615779.4:c.89777A>G (TTN) | ENSP00000483597.1:p.Asn29926Ser | |
| NM_001256850.1:c.89777A>G (TTN) | NP_001243779.1:p.Asn29926Ser | |
| NM_001267550.2:c.94700A>G (TTN) MANE Select | NP_001254479.2:p.Asn31567Ser | |
| NM_003319.4:c.67505A>G (TTN) | NP_003310.4:p.Asn22502Ser | |
| NM_133378.4:c.86996A>G (TTN) | NP_596869.4:p.Asn28999Ser | |
| NM_133432.3:c.67880A>G (TTN) | NP_597676.3:p.Asn22627Ser | |
| NM_133437.4:c.68081A>G (TTN) | NP_597681.4:p.Asn22694Ser | |
| NR_038271.1:n.446+23092T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+4367T>C (TTN-AS1) | ||
| XM_011511729.1:c.93797A>G (TTN) | XP_011510031.1:p.Asn31266Ser | |
| XM_011511730.1:c.67691A>G (TTN) | XP_011510032.1:p.Asn22564Ser | |
| XM_011511731.1:c.67550A>G (TTN) | XP_011510033.1:p.Asn22517Ser | |
| XM_017004819.1:c.93593A>G (TTN) | XP_016860308.1:p.Asn31198Ser | |
| XM_017004820.1:c.88991A>G (TTN) | XP_016860309.1:p.Asn29664Ser | |
| XM_017004821.1:c.88988A>G (TTN) | XP_016860310.1:p.Asn29663Ser | |
| XM_017004822.1:c.86030A>G (TTN) | XP_016860311.1:p.Asn28677Ser | |
| XM_017004823.1:c.67646A>G (TTN) | XP_016860312.1:p.Asn22549Ser | |
| XM_024453094.1:c.89141A>G (TTN) | XP_024308862.1:p.Asn29714Ser | |
| XM_024453095.1:c.89138A>G (TTN) | XP_024308863.1:p.Asn29713Ser | |
| XM_024453096.1:c.88571A>G (TTN) | XP_024308864.1:p.Asn29524Ser | |
| XM_024453097.1:c.85913A>G (TTN) | XP_024308865.1:p.Asn28638Ser | |
| XM_024453098.1:c.85832A>G (TTN) | XP_024308866.1:p.Asn28611Ser | |
| XM_024453099.1:c.67595A>G (TTN) | XP_024308867.1:p.Asn22532Ser | |
| XM_024453100.1:c.57449A>G (TTN) | XP_024308868.1:p.Asn19150Ser |