Linked Data
dbSNP Id:
rs888849578
ExAC:
2:179414573 G / A
gnomAD v2:
2-179414573-G-A
gnomAD v4:
2-178549846-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549846G>A , CM000664.2:g.178549846G>A | GRCh38 |
| NC_000002.11:g.179414573G>A , CM000664.1:g.179414573G>A | GRCh37 |
| NC_000002.10:g.179122819G>A | NCBI36 |
| NG_011618.3:g.285957C>T , LRG_391:g.285957C>T | |
| NG_051363.1:g.32020G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84172C>T (TTN) | ENSP00000343764.6:p.Pro28058Ser | |
| ENST00000342175.11:c.65257C>T (TTN) | ENSP00000340554.6:p.Pro21753Ser | |
| ENST00000359218.10:c.65056C>T (TTN) | ENSP00000352154.5:p.Pro21686Ser | |
| ENST00000342175.10:c.65257C>T (TTN) | ENSP00000340554.6:p.Pro21753Ser | |
| ENST00000342992.10:c.84172C>T (TTN) | ENSP00000343764.6:p.Pro28058Ser | |
| ENST00000359218.9:c.65056C>T (TTN) | ENSP00000352154.5:p.Pro21686Ser | |
| ENST00000460472.6:c.64681C>T (TTN) | ENSP00000434586.1:p.Pro21561Ser | |
| ENST00000589042.5:c.91876C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro30626Ser | |
| ENST00000591111.5:c.86953C>T (TTN) | ENSP00000465570.1:p.Pro28985Ser | |
| ENST00000615779.4:c.86953C>T (TTN) | ENSP00000483597.1:p.Pro28985Ser | |
| NM_001256850.1:c.86953C>T (TTN) | NP_001243779.1:p.Pro28985Ser | |
| NM_001267550.2:c.91876C>T (TTN) MANE Select | NP_001254479.2:p.Pro30626Ser | |
| NM_003319.4:c.64681C>T (TTN) | NP_003310.4:p.Pro21561Ser | |
| NM_133378.4:c.84172C>T (TTN) | NP_596869.4:p.Pro28058Ser | |
| NM_133432.3:c.65056C>T (TTN) | NP_597676.3:p.Pro21686Ser | |
| NM_133437.4:c.65257C>T (TTN) | NP_597681.4:p.Pro21753Ser | |
| NR_038271.1:n.447-21454G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+7485G>A (TTN-AS1) | ||
| XM_011511729.1:c.90973C>T (TTN) | XP_011510031.1:p.Pro30325Ser | |
| XM_011511730.1:c.64867C>T (TTN) | XP_011510032.1:p.Pro21623Ser | |
| XM_011511731.1:c.64726C>T (TTN) | XP_011510033.1:p.Pro21576Ser | |
| XM_017004819.1:c.90769C>T (TTN) | XP_016860308.1:p.Pro30257Ser | |
| XM_017004820.1:c.86167C>T (TTN) | XP_016860309.1:p.Pro28723Ser | |
| XM_017004821.1:c.86164C>T (TTN) | XP_016860310.1:p.Pro28722Ser | |
| XM_017004822.1:c.83206C>T (TTN) | XP_016860311.1:p.Pro27736Ser | |
| XM_017004823.1:c.64822C>T (TTN) | XP_016860312.1:p.Pro21608Ser | |
| XM_024453094.1:c.86317C>T (TTN) | XP_024308862.1:p.Pro28773Ser | |
| XM_024453095.1:c.86314C>T (TTN) | XP_024308863.1:p.Pro28772Ser | |
| XM_024453096.1:c.85747C>T (TTN) | XP_024308864.1:p.Pro28583Ser | |
| XM_024453097.1:c.83089C>T (TTN) | XP_024308865.1:p.Pro27697Ser | |
| XM_024453098.1:c.83008C>T (TTN) | XP_024308866.1:p.Pro27670Ser | |
| XM_024453099.1:c.64771C>T (TTN) | XP_024308867.1:p.Pro21591Ser | |
| XM_024453100.1:c.54625C>T (TTN) | XP_024308868.1:p.Pro18209Ser |