Linked Data
ClinVar Variation Id:
229464
dbSNP Id:
rs766074604
ExAC:
2:179468897 G / A
gnomAD v2:
2-179468897-G-A
gnomAD v3:
2-178604170-G-A
gnomAD v4:
2-178604170-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178604170G>A , CM000664.2:g.178604170G>A | GRCh38 |
| NC_000002.11:g.179468897G>A , CM000664.1:g.179468897G>A | GRCh37 |
| NC_000002.10:g.179177142G>A | NCBI36 |
| NG_011618.3:g.231633C>T , LRG_391:g.231633C>T | |
| NG_051363.1:g.86344G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46813C>T (TTN) | ENSP00000343764.6:p.Pro15605Ser | |
| ENST00000342175.11:c.27898C>T (TTN) | ENSP00000340554.6:p.Pro9300Ser | |
| ENST00000359218.10:c.27697C>T (TTN) | ENSP00000352154.5:p.Pro9233Ser | |
| ENST00000342175.10:c.27898C>T (TTN) | ENSP00000340554.6:p.Pro9300Ser | |
| ENST00000342992.10:c.46813C>T (TTN) | ENSP00000343764.6:p.Pro15605Ser | |
| ENST00000359218.9:c.27697C>T (TTN) | ENSP00000352154.5:p.Pro9233Ser | |
| ENST00000460472.6:c.27322C>T (TTN) | ENSP00000434586.1:p.Pro9108Ser | |
| ENST00000589042.5:c.54517C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro18173Ser | |
| ENST00000591111.5:c.49594C>T (TTN) | ENSP00000465570.1:p.Pro16532Ser | |
| ENST00000615779.4:c.49594C>T (TTN) | ENSP00000483597.1:p.Pro16532Ser | |
| NM_001256850.1:c.49594C>T (TTN) | NP_001243779.1:p.Pro16532Ser | |
| NM_001267550.2:c.54517C>T (TTN) MANE Select | NP_001254479.2:p.Pro18173Ser | |
| NM_003319.4:c.27322C>T (TTN) | NP_003310.4:p.Pro9108Ser | |
| NM_133378.4:c.46813C>T (TTN) | NP_596869.4:p.Pro15605Ser | |
| NM_133432.3:c.27697C>T (TTN) | NP_597676.3:p.Pro9233Ser | |
| NM_133437.4:c.27898C>T (TTN) | NP_597681.4:p.Pro9300Ser | |
| NR_038271.1:n.683-3997G>A (TTN-AS1) | ||
| NR_038272.1:n.3918-561G>A (TTN-AS1) | ||
| XM_011511729.1:c.53614C>T (TTN) | XP_011510031.1:p.Pro17872Ser | |
| XM_011511730.1:c.27508C>T (TTN) | XP_011510032.1:p.Pro9170Ser | |
| XM_011511731.1:c.27367C>T (TTN) | XP_011510033.1:p.Pro9123Ser | |
| XM_017004819.1:c.53410C>T (TTN) | XP_016860308.1:p.Pro17804Ser | |
| XM_017004820.1:c.48808C>T (TTN) | XP_016860309.1:p.Pro16270Ser | |
| XM_017004821.1:c.48805C>T (TTN) | XP_016860310.1:p.Pro16269Ser | |
| XM_017004822.1:c.45847C>T (TTN) | XP_016860311.1:p.Pro15283Ser | |
| XM_017004823.1:c.27463C>T (TTN) | XP_016860312.1:p.Pro9155Ser | |
| XM_024453094.1:c.48958C>T (TTN) | XP_024308862.1:p.Pro16320Ser | |
| XM_024453095.1:c.48955C>T (TTN) | XP_024308863.1:p.Pro16319Ser | |
| XM_024453096.1:c.48388C>T (TTN) | XP_024308864.1:p.Pro16130Ser | |
| XM_024453097.1:c.45730C>T (TTN) | XP_024308865.1:p.Pro15244Ser | |
| XM_024453098.1:c.45649C>T (TTN) | XP_024308866.1:p.Pro15217Ser | |
| XM_024453099.1:c.27412C>T (TTN) | XP_024308867.1:p.Pro9138Ser | |
| XM_024453100.1:c.17266C>T (TTN) | XP_024308868.1:p.Pro5756Ser |