Linked Data
ClinVar Variation Id:
228141
ClinVar RCV Id:
RCV000215599
RCV001128967
RCV001128968
RCV001128969
RCV001128970
RCV001135952
RCV001495271
RCV002338674
dbSNP Id:
rs754043680
ExAC:
2:179435898 G / A
gnomAD v2:
2-179435898-G-A
gnomAD v3:
2-178571171-G-A
gnomAD v4:
2-178571171-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178571171G>A , CM000664.2:g.178571171G>A | GRCh38 |
| NC_000002.11:g.179435898G>A , CM000664.1:g.179435898G>A | GRCh37 |
| NC_000002.10:g.179144144G>A | NCBI36 |
| NG_011618.3:g.264632C>T , LRG_391:g.264632C>T | |
| NG_051363.1:g.53345G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.67257C>T (TTN) | ENSP00000343764.6:p.Asn22419= | |
| ENST00000342175.11:c.48342C>T (TTN) | ENSP00000340554.6:p.Asn16114= | |
| ENST00000359218.10:c.48141C>T (TTN) | ENSP00000352154.5:p.Asn16047= | |
| ENST00000342175.10:c.48342C>T (TTN) | ENSP00000340554.6:p.Asn16114= | |
| ENST00000342992.10:c.67257C>T (TTN) | ENSP00000343764.6:p.Asn22419= | |
| ENST00000359218.9:c.48141C>T (TTN) | ENSP00000352154.5:p.Asn16047= | |
| ENST00000460472.6:c.47766C>T (TTN) | ENSP00000434586.1:p.Asn15922= | |
| ENST00000589042.5:c.74961C>T (TTN) MANE Select | ENSP00000467141.1:p.Asn24987= | |
| ENST00000591111.5:c.70038C>T (TTN) | ENSP00000465570.1:p.Asn23346= | |
| ENST00000615779.4:c.70038C>T (TTN) | ENSP00000483597.1:p.Asn23346= | |
| NM_001256850.1:c.70038C>T (TTN) | NP_001243779.1:p.Asn23346= | |
| NM_001267550.2:c.74961C>T (TTN) MANE Select | NP_001254479.2:p.Asn24987= | |
| NM_003319.4:c.47766C>T (TTN) | NP_003310.4:p.Asn15922= | |
| NM_133378.4:c.67257C>T (TTN) | NP_596869.4:p.Asn22419= | |
| NM_133432.3:c.48141C>T (TTN) | NP_597676.3:p.Asn16047= | |
| NM_133437.4:c.48342C>T (TTN) | NP_597681.4:p.Asn16114= | |
| NR_038271.1:n.447-129G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-11401G>A (TTN-AS1) | ||
| XM_011511729.1:c.74058C>T (TTN) | XP_011510031.1:p.Asn24686= | |
| XM_011511730.1:c.47952C>T (TTN) | XP_011510032.1:p.Asn15984= | |
| XM_011511731.1:c.47811C>T (TTN) | XP_011510033.1:p.Asn15937= | |
| XM_017004819.1:c.73854C>T (TTN) | XP_016860308.1:p.Asn24618= | |
| XM_017004820.1:c.69252C>T (TTN) | XP_016860309.1:p.Asn23084= | |
| XM_017004821.1:c.69249C>T (TTN) | XP_016860310.1:p.Asn23083= | |
| XM_017004822.1:c.66291C>T (TTN) | XP_016860311.1:p.Asn22097= | |
| XM_017004823.1:c.47907C>T (TTN) | XP_016860312.1:p.Asn15969= | |
| XM_024453094.1:c.69402C>T (TTN) | XP_024308862.1:p.Asn23134= | |
| XM_024453095.1:c.69399C>T (TTN) | XP_024308863.1:p.Asn23133= | |
| XM_024453096.1:c.68832C>T (TTN) | XP_024308864.1:p.Asn22944= | |
| XM_024453097.1:c.66174C>T (TTN) | XP_024308865.1:p.Asn22058= | |
| XM_024453098.1:c.66093C>T (TTN) | XP_024308866.1:p.Asn22031= | |
| XM_024453099.1:c.47856C>T (TTN) | XP_024308867.1:p.Asn15952= | |
| XM_024453100.1:c.37710C>T (TTN) | XP_024308868.1:p.Asn12570= |