Linked Data
ClinVar Variation Id:
284294
ClinVar RCV Id:
RCV000285473
RCV000379804
RCV000339356
RCV000345217
RCV000391200
RCV000337312
RCV000642902
RCV002347997
dbSNP Id:
rs201422612
ExAC:
2:179427878 G / A
gnomAD v2:
2-179427878-G-A
gnomAD v3:
2-178563151-G-A
gnomAD v4:
2-178563151-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178563151G>A , CM000664.2:g.178563151G>A | GRCh38 |
| NC_000002.11:g.179427878G>A , CM000664.1:g.179427878G>A | GRCh37 |
| NC_000002.10:g.179136124G>A | NCBI36 |
| NG_011618.3:g.272652C>T , LRG_391:g.272652C>T | |
| NG_051363.1:g.45325G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75277C>T (TTN) | ENSP00000343764.6:p.Pro25093Ser | |
| ENST00000342175.11:c.56362C>T (TTN) | ENSP00000340554.6:p.Pro18788Ser | |
| ENST00000359218.10:c.56161C>T (TTN) | ENSP00000352154.5:p.Pro18721Ser | |
| ENST00000342175.10:c.56362C>T (TTN) | ENSP00000340554.6:p.Pro18788Ser | |
| ENST00000342992.10:c.75277C>T (TTN) | ENSP00000343764.6:p.Pro25093Ser | |
| ENST00000359218.9:c.56161C>T (TTN) | ENSP00000352154.5:p.Pro18721Ser | |
| ENST00000460472.6:c.55786C>T (TTN) | ENSP00000434586.1:p.Pro18596Ser | |
| ENST00000589042.5:c.82981C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro27661Ser | |
| ENST00000591111.5:c.78058C>T (TTN) | ENSP00000465570.1:p.Pro26020Ser | |
| ENST00000615779.4:c.78058C>T (TTN) | ENSP00000483597.1:p.Pro26020Ser | |
| NM_001256850.1:c.78058C>T (TTN) | NP_001243779.1:p.Pro26020Ser | |
| NM_001267550.2:c.82981C>T (TTN) MANE Select | NP_001254479.2:p.Pro27661Ser | |
| NM_003319.4:c.55786C>T (TTN) | NP_003310.4:p.Pro18596Ser | |
| NM_133378.4:c.75277C>T (TTN) | NP_596869.4:p.Pro25093Ser | |
| NM_133432.3:c.56161C>T (TTN) | NP_597676.3:p.Pro18721Ser | |
| NM_133437.4:c.56362C>T (TTN) | NP_597681.4:p.Pro18788Ser | |
| NR_038271.1:n.447-8149G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-19421G>A (TTN-AS1) | ||
| XM_011511729.1:c.82078C>T (TTN) | XP_011510031.1:p.Pro27360Ser | |
| XM_011511730.1:c.55972C>T (TTN) | XP_011510032.1:p.Pro18658Ser | |
| XM_011511731.1:c.55831C>T (TTN) | XP_011510033.1:p.Pro18611Ser | |
| XM_017004819.1:c.81874C>T (TTN) | XP_016860308.1:p.Pro27292Ser | |
| XM_017004820.1:c.77272C>T (TTN) | XP_016860309.1:p.Pro25758Ser | |
| XM_017004821.1:c.77269C>T (TTN) | XP_016860310.1:p.Pro25757Ser | |
| XM_017004822.1:c.74311C>T (TTN) | XP_016860311.1:p.Pro24771Ser | |
| XM_017004823.1:c.55927C>T (TTN) | XP_016860312.1:p.Pro18643Ser | |
| XM_024453094.1:c.77422C>T (TTN) | XP_024308862.1:p.Pro25808Ser | |
| XM_024453095.1:c.77419C>T (TTN) | XP_024308863.1:p.Pro25807Ser | |
| XM_024453096.1:c.76852C>T (TTN) | XP_024308864.1:p.Pro25618Ser | |
| XM_024453097.1:c.74194C>T (TTN) | XP_024308865.1:p.Pro24732Ser | |
| XM_024453098.1:c.74113C>T (TTN) | XP_024308866.1:p.Pro24705Ser | |
| XM_024453099.1:c.55876C>T (TTN) | XP_024308867.1:p.Pro18626Ser | |
| XM_024453100.1:c.45730C>T (TTN) | XP_024308868.1:p.Pro15244Ser |