Linked Data
ClinVar Variation Id:
238857
dbSNP Id:
rs377612718
ExAC:
2:179424136 T / C
gnomAD v2:
2-179424136-T-C
gnomAD v3:
2-178559409-T-C
gnomAD v4:
2-178559409-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178559409T>C , CM000664.2:g.178559409T>C | GRCh38 |
| NC_000002.11:g.179424136T>C , CM000664.1:g.179424136T>C | GRCh37 |
| NC_000002.10:g.179132382T>C | NCBI36 |
| NG_011618.3:g.276394A>G , LRG_391:g.276394A>G | |
| NG_051363.1:g.41583T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79019A>G (TTN) | ENSP00000343764.6:p.Asn26340Ser | |
| ENST00000342175.11:c.60104A>G (TTN) | ENSP00000340554.6:p.Asn20035Ser | |
| ENST00000359218.10:c.59903A>G (TTN) | ENSP00000352154.5:p.Asn19968Ser | |
| ENST00000342175.10:c.60104A>G (TTN) | ENSP00000340554.6:p.Asn20035Ser | |
| ENST00000342992.10:c.79019A>G (TTN) | ENSP00000343764.6:p.Asn26340Ser | |
| ENST00000359218.9:c.59903A>G (TTN) | ENSP00000352154.5:p.Asn19968Ser | |
| ENST00000460472.6:c.59528A>G (TTN) | ENSP00000434586.1:p.Asn19843Ser | |
| ENST00000589042.5:c.86723A>G (TTN) MANE Select | ENSP00000467141.1:p.Asn28908Ser | |
| ENST00000591111.5:c.81800A>G (TTN) | ENSP00000465570.1:p.Asn27267Ser | |
| ENST00000615779.4:c.81800A>G (TTN) | ENSP00000483597.1:p.Asn27267Ser | |
| NM_001256850.1:c.81800A>G (TTN) | NP_001243779.1:p.Asn27267Ser | |
| NM_001267550.2:c.86723A>G (TTN) MANE Select | NP_001254479.2:p.Asn28908Ser | |
| NM_003319.4:c.59528A>G (TTN) | NP_003310.4:p.Asn19843Ser | |
| NM_133378.4:c.79019A>G (TTN) | NP_596869.4:p.Asn26340Ser | |
| NM_133432.3:c.59903A>G (TTN) | NP_597676.3:p.Asn19968Ser | |
| NM_133437.4:c.60104A>G (TTN) | NP_597681.4:p.Asn20035Ser | |
| NR_038271.1:n.447-11891T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+17048T>C (TTN-AS1) | ||
| XM_011511729.1:c.85820A>G (TTN) | XP_011510031.1:p.Asn28607Ser | |
| XM_011511730.1:c.59714A>G (TTN) | XP_011510032.1:p.Asn19905Ser | |
| XM_011511731.1:c.59573A>G (TTN) | XP_011510033.1:p.Asn19858Ser | |
| XM_017004819.1:c.85616A>G (TTN) | XP_016860308.1:p.Asn28539Ser | |
| XM_017004820.1:c.81014A>G (TTN) | XP_016860309.1:p.Asn27005Ser | |
| XM_017004821.1:c.81011A>G (TTN) | XP_016860310.1:p.Asn27004Ser | |
| XM_017004822.1:c.78053A>G (TTN) | XP_016860311.1:p.Asn26018Ser | |
| XM_017004823.1:c.59669A>G (TTN) | XP_016860312.1:p.Asn19890Ser | |
| XM_024453094.1:c.81164A>G (TTN) | XP_024308862.1:p.Asn27055Ser | |
| XM_024453095.1:c.81161A>G (TTN) | XP_024308863.1:p.Asn27054Ser | |
| XM_024453096.1:c.80594A>G (TTN) | XP_024308864.1:p.Asn26865Ser | |
| XM_024453097.1:c.77936A>G (TTN) | XP_024308865.1:p.Asn25979Ser | |
| XM_024453098.1:c.77855A>G (TTN) | XP_024308866.1:p.Asn25952Ser | |
| XM_024453099.1:c.59618A>G (TTN) | XP_024308867.1:p.Asn19873Ser | |
| XM_024453100.1:c.49472A>G (TTN) | XP_024308868.1:p.Asn16491Ser |