Linked Data
ClinVar Variation Id:
332801
dbSNP Id:
rs781220405
ExAC:
2:179445334 G / A
gnomAD v2:
2-179445334-G-A
gnomAD v3:
2-178580607-G-A
gnomAD v4:
2-178580607-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178580607G>A , CM000664.2:g.178580607G>A | GRCh38 |
| NC_000002.11:g.179445334G>A , CM000664.1:g.179445334G>A | GRCh37 |
| NC_000002.10:g.179153580G>A | NCBI36 |
| NG_011618.3:g.255196C>T , LRG_391:g.255196C>T | |
| NG_051363.1:g.62781G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.59068C>T (TTN) | ENSP00000343764.6:p.Pro19690Ser | |
| ENST00000342175.11:c.40153C>T (TTN) | ENSP00000340554.6:p.Pro13385Ser | |
| ENST00000359218.10:c.39952C>T (TTN) | ENSP00000352154.5:p.Pro13318Ser | |
| ENST00000342175.10:c.40153C>T (TTN) | ENSP00000340554.6:p.Pro13385Ser | |
| ENST00000342992.10:c.59068C>T (TTN) | ENSP00000343764.6:p.Pro19690Ser | |
| ENST00000359218.9:c.39952C>T (TTN) | ENSP00000352154.5:p.Pro13318Ser | |
| ENST00000460472.6:c.39577C>T (TTN) | ENSP00000434586.1:p.Pro13193Ser | |
| ENST00000589042.5:c.66772C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro22258Ser | |
| ENST00000591111.5:c.61849C>T (TTN) | ENSP00000465570.1:p.Pro20617Ser | |
| ENST00000615779.4:c.61849C>T (TTN) | ENSP00000483597.1:p.Pro20617Ser | |
| NM_001256850.1:c.61849C>T (TTN) | NP_001243779.1:p.Pro20617Ser | |
| NM_001267550.2:c.66772C>T (TTN) MANE Select | NP_001254479.2:p.Pro22258Ser | |
| NM_003319.4:c.39577C>T (TTN) | NP_003310.4:p.Pro13193Ser | |
| NM_133378.4:c.59068C>T (TTN) | NP_596869.4:p.Pro19690Ser | |
| NM_133432.3:c.39952C>T (TTN) | NP_597676.3:p.Pro13318Ser | |
| NM_133437.4:c.40153C>T (TTN) | NP_597681.4:p.Pro13385Ser | |
| NR_038271.1:n.596+9158G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-1965G>A (TTN-AS1) | ||
| XM_011511729.1:c.65869C>T (TTN) | XP_011510031.1:p.Pro21957Ser | |
| XM_011511730.1:c.39763C>T (TTN) | XP_011510032.1:p.Pro13255Ser | |
| XM_011511731.1:c.39622C>T (TTN) | XP_011510033.1:p.Pro13208Ser | |
| XM_017004819.1:c.65665C>T (TTN) | XP_016860308.1:p.Pro21889Ser | |
| XM_017004820.1:c.61063C>T (TTN) | XP_016860309.1:p.Pro20355Ser | |
| XM_017004821.1:c.61060C>T (TTN) | XP_016860310.1:p.Pro20354Ser | |
| XM_017004822.1:c.58102C>T (TTN) | XP_016860311.1:p.Pro19368Ser | |
| XM_017004823.1:c.39718C>T (TTN) | XP_016860312.1:p.Pro13240Ser | |
| XM_024453094.1:c.61213C>T (TTN) | XP_024308862.1:p.Pro20405Ser | |
| XM_024453095.1:c.61210C>T (TTN) | XP_024308863.1:p.Pro20404Ser | |
| XM_024453096.1:c.60643C>T (TTN) | XP_024308864.1:p.Pro20215Ser | |
| XM_024453097.1:c.57985C>T (TTN) | XP_024308865.1:p.Pro19329Ser | |
| XM_024453098.1:c.57904C>T (TTN) | XP_024308866.1:p.Pro19302Ser | |
| XM_024453099.1:c.39667C>T (TTN) | XP_024308867.1:p.Pro13223Ser | |
| XM_024453100.1:c.29521C>T (TTN) | XP_024308868.1:p.Pro9841Ser |