Linked Data
ClinVar Variation Id:
212484
dbSNP Id:
rs140025425
ExAC:
2:179402353 G / A
gnomAD v2:
2-179402353-G-A
gnomAD v3:
2-178537626-G-A
gnomAD v4:
2-178537626-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537626G>A , CM000664.2:g.178537626G>A | GRCh38 |
| NC_000002.11:g.179402353G>A , CM000664.1:g.179402353G>A | GRCh37 |
| NC_000002.10:g.179110599G>A | NCBI36 |
| NG_011618.3:g.298177C>T , LRG_391:g.298177C>T | |
| NG_051363.1:g.19800G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91877C>T (TTN) | ENSP00000343764.6:p.Pro30626Leu | |
| ENST00000342175.11:c.72962C>T (TTN) | ENSP00000340554.6:p.Pro24321Leu | |
| ENST00000359218.10:c.72761C>T (TTN) | ENSP00000352154.5:p.Pro24254Leu | |
| ENST00000342175.10:c.72962C>T (TTN) | ENSP00000340554.6:p.Pro24321Leu | |
| ENST00000342992.10:c.91877C>T (TTN) | ENSP00000343764.6:p.Pro30626Leu | |
| ENST00000359218.9:c.72761C>T (TTN) | ENSP00000352154.5:p.Pro24254Leu | |
| ENST00000460472.6:c.72386C>T (TTN) | ENSP00000434586.1:p.Pro24129Leu | |
| ENST00000589042.5:c.99581C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro33194Leu | |
| ENST00000591111.5:c.94658C>T (TTN) | ENSP00000465570.1:p.Pro31553Leu | |
| ENST00000615779.4:c.94658C>T (TTN) | ENSP00000483597.1:p.Pro31553Leu | |
| NM_001256850.1:c.94658C>T (TTN) | NP_001243779.1:p.Pro31553Leu | |
| NM_001267550.2:c.99581C>T (TTN) MANE Select | NP_001254479.2:p.Pro33194Leu | |
| NM_003319.4:c.72386C>T (TTN) | NP_003310.4:p.Pro24129Leu | |
| NM_133378.4:c.91877C>T (TTN) | NP_596869.4:p.Pro30626Leu | |
| NM_133432.3:c.72761C>T (TTN) | NP_597676.3:p.Pro24254Leu | |
| NM_133437.4:c.72962C>T (TTN) | NP_597681.4:p.Pro24321Leu | |
| NR_038271.1:n.446+13990G>A (TTN-AS1) | ||
| NR_038272.1:n.582G>A (TTN-AS1) | ||
| XM_011511729.1:c.98678C>T (TTN) | XP_011510031.1:p.Pro32893Leu | |
| XM_011511730.1:c.72572C>T (TTN) | XP_011510032.1:p.Pro24191Leu | |
| XM_011511731.1:c.72431C>T (TTN) | XP_011510033.1:p.Pro24144Leu | |
| XM_017004819.1:c.98474C>T (TTN) | XP_016860308.1:p.Pro32825Leu | |
| XM_017004820.1:c.93872C>T (TTN) | XP_016860309.1:p.Pro31291Leu | |
| XM_017004821.1:c.93869C>T (TTN) | XP_016860310.1:p.Pro31290Leu | |
| XM_017004822.1:c.90911C>T (TTN) | XP_016860311.1:p.Pro30304Leu | |
| XM_017004823.1:c.72527C>T (TTN) | XP_016860312.1:p.Pro24176Leu | |
| XM_024453094.1:c.94022C>T (TTN) | XP_024308862.1:p.Pro31341Leu | |
| XM_024453095.1:c.94019C>T (TTN) | XP_024308863.1:p.Pro31340Leu | |
| XM_024453096.1:c.93452C>T (TTN) | XP_024308864.1:p.Pro31151Leu | |
| XM_024453097.1:c.90794C>T (TTN) | XP_024308865.1:p.Pro30265Leu | |
| XM_024453098.1:c.90713C>T (TTN) | XP_024308866.1:p.Pro30238Leu | |
| XM_024453099.1:c.72476C>T (TTN) | XP_024308867.1:p.Pro24159Leu | |
| XM_024453100.1:c.62330C>T (TTN) | XP_024308868.1:p.Pro20777Leu |