Linked Data
ClinVar Variation Id:
47265
ClinVar RCV Id:
RCV000040535
RCV000242208
RCV000270511
RCV000275015
RCV000366186
RCV000325543
RCV000360261
RCV000488277
RCV000769965
RCV000852818
RCV001079297
RCV001293210
RCV003993767
RCV002222367
dbSNP Id:
rs55980498
ExAC:
2:179441932 G / A
gnomAD v2:
2-179441932-G-A
gnomAD v3:
2-178577205-G-A
gnomAD v4:
2-178577205-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178577205G>A , CM000664.2:g.178577205G>A | GRCh38 |
| NC_000002.11:g.179441932G>A , CM000664.1:g.179441932G>A | GRCh37 |
| NC_000002.10:g.179150178G>A | NCBI36 |
| NG_011618.3:g.258598C>T , LRG_391:g.258598C>T | |
| NG_051363.1:g.59379G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.61426C>T (TTN) | ENSP00000343764.6:p.Pro20476Ser | |
| ENST00000342175.11:c.42511C>T (TTN) | ENSP00000340554.6:p.Pro14171Ser | |
| ENST00000359218.10:c.42310C>T (TTN) | ENSP00000352154.5:p.Pro14104Ser | |
| ENST00000342175.10:c.42511C>T (TTN) | ENSP00000340554.6:p.Pro14171Ser | |
| ENST00000342992.10:c.61426C>T (TTN) | ENSP00000343764.6:p.Pro20476Ser | |
| ENST00000359218.9:c.42310C>T (TTN) | ENSP00000352154.5:p.Pro14104Ser | |
| ENST00000460472.6:c.41935C>T (TTN) | ENSP00000434586.1:p.Pro13979Ser | |
| ENST00000589042.5:c.69130C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro23044Ser | |
| ENST00000591111.5:c.64207C>T (TTN) | ENSP00000465570.1:p.Pro21403Ser | |
| ENST00000615779.4:c.64207C>T (TTN) | ENSP00000483597.1:p.Pro21403Ser | |
| NM_001256850.1:c.64207C>T (TTN) | NP_001243779.1:p.Pro21403Ser | |
| NM_001267550.2:c.69130C>T (TTN) MANE Select | NP_001254479.2:p.Pro23044Ser | |
| NM_003319.4:c.41935C>T (TTN) | NP_003310.4:p.Pro13979Ser | |
| NM_133378.4:c.61426C>T (TTN) | NP_596869.4:p.Pro20476Ser | |
| NM_133432.3:c.42310C>T (TTN) | NP_597676.3:p.Pro14104Ser | |
| NM_133437.4:c.42511C>T (TTN) | NP_597681.4:p.Pro14171Ser | |
| NR_038271.1:n.596+5756G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-5367G>A (TTN-AS1) | ||
| XM_011511729.1:c.68227C>T (TTN) | XP_011510031.1:p.Pro22743Ser | |
| XM_011511730.1:c.42121C>T (TTN) | XP_011510032.1:p.Pro14041Ser | |
| XM_011511731.1:c.41980C>T (TTN) | XP_011510033.1:p.Pro13994Ser | |
| XM_017004819.1:c.68023C>T (TTN) | XP_016860308.1:p.Pro22675Ser | |
| XM_017004820.1:c.63421C>T (TTN) | XP_016860309.1:p.Pro21141Ser | |
| XM_017004821.1:c.63418C>T (TTN) | XP_016860310.1:p.Pro21140Ser | |
| XM_017004822.1:c.60460C>T (TTN) | XP_016860311.1:p.Pro20154Ser | |
| XM_017004823.1:c.42076C>T (TTN) | XP_016860312.1:p.Pro14026Ser | |
| XM_024453094.1:c.63571C>T (TTN) | XP_024308862.1:p.Pro21191Ser | |
| XM_024453095.1:c.63568C>T (TTN) | XP_024308863.1:p.Pro21190Ser | |
| XM_024453096.1:c.63001C>T (TTN) | XP_024308864.1:p.Pro21001Ser | |
| XM_024453097.1:c.60343C>T (TTN) | XP_024308865.1:p.Pro20115Ser | |
| XM_024453098.1:c.60262C>T (TTN) | XP_024308866.1:p.Pro20088Ser | |
| XM_024453099.1:c.42025C>T (TTN) | XP_024308867.1:p.Pro14009Ser | |
| XM_024453100.1:c.31879C>T (TTN) | XP_024308868.1:p.Pro10627Ser |