Linked Data
ClinVar Variation Id:
2429551
ClinVar RCV Id:
RCV003127005
dbSNP Id:
rs757129250
ExAC:
2:179455845 G / A
gnomAD v2:
2-179455845-G-A
gnomAD v3:
2-178591118-G-A
gnomAD v4:
2-178591118-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178591118G>A , CM000664.2:g.178591118G>A | GRCh38 |
| NC_000002.11:g.179455845G>A , CM000664.1:g.179455845G>A | GRCh37 |
| NC_000002.10:g.179164091G>A | NCBI36 |
| NG_011618.3:g.244685C>T , LRG_391:g.244685C>T | |
| NG_051363.1:g.73292G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.52903C>T (TTN) | ENSP00000343764.6:p.Pro17635Ser | |
| ENST00000342175.11:c.33988C>T (TTN) | ENSP00000340554.6:p.Pro11330Ser | |
| ENST00000359218.10:c.33787C>T (TTN) | ENSP00000352154.5:p.Pro11263Ser | |
| ENST00000342175.10:c.33988C>T (TTN) | ENSP00000340554.6:p.Pro11330Ser | |
| ENST00000342992.10:c.52903C>T (TTN) | ENSP00000343764.6:p.Pro17635Ser | |
| ENST00000359218.9:c.33787C>T (TTN) | ENSP00000352154.5:p.Pro11263Ser | |
| ENST00000460472.6:c.33412C>T (TTN) | ENSP00000434586.1:p.Pro11138Ser | |
| ENST00000589042.5:c.60607C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro20203Ser | |
| ENST00000591111.5:c.55684C>T (TTN) | ENSP00000465570.1:p.Pro18562Ser | |
| ENST00000615779.4:c.55684C>T (TTN) | ENSP00000483597.1:p.Pro18562Ser | |
| NM_001256850.1:c.55684C>T (TTN) | NP_001243779.1:p.Pro18562Ser | |
| NM_001267550.2:c.60607C>T (TTN) MANE Select | NP_001254479.2:p.Pro20203Ser | |
| NM_003319.4:c.33412C>T (TTN) | NP_003310.4:p.Pro11138Ser | |
| NM_133378.4:c.52903C>T (TTN) | NP_596869.4:p.Pro17635Ser | |
| NM_133432.3:c.33787C>T (TTN) | NP_597676.3:p.Pro11263Ser | |
| NM_133437.4:c.33988C>T (TTN) | NP_597681.4:p.Pro11330Ser | |
| NR_038271.1:n.597-6478G>A (TTN-AS1) | ||
| NR_038272.1:n.3189-21G>A (TTN-AS1) | ||
| XM_011511729.1:c.59704C>T (TTN) | XP_011510031.1:p.Pro19902Ser | |
| XM_011511730.1:c.33598C>T (TTN) | XP_011510032.1:p.Pro11200Ser | |
| XM_011511731.1:c.33457C>T (TTN) | XP_011510033.1:p.Pro11153Ser | |
| XM_017004819.1:c.59500C>T (TTN) | XP_016860308.1:p.Pro19834Ser | |
| XM_017004820.1:c.54898C>T (TTN) | XP_016860309.1:p.Pro18300Ser | |
| XM_017004821.1:c.54895C>T (TTN) | XP_016860310.1:p.Pro18299Ser | |
| XM_017004822.1:c.51937C>T (TTN) | XP_016860311.1:p.Pro17313Ser | |
| XM_017004823.1:c.33553C>T (TTN) | XP_016860312.1:p.Pro11185Ser | |
| XM_024453094.1:c.55048C>T (TTN) | XP_024308862.1:p.Pro18350Ser | |
| XM_024453095.1:c.55045C>T (TTN) | XP_024308863.1:p.Pro18349Ser | |
| XM_024453096.1:c.54478C>T (TTN) | XP_024308864.1:p.Pro18160Ser | |
| XM_024453097.1:c.51820C>T (TTN) | XP_024308865.1:p.Pro17274Ser | |
| XM_024453098.1:c.51739C>T (TTN) | XP_024308866.1:p.Pro17247Ser | |
| XM_024453099.1:c.33502C>T (TTN) | XP_024308867.1:p.Pro11168Ser | |
| XM_024453100.1:c.23356C>T (TTN) | XP_024308868.1:p.Pro7786Ser |