Linked Data
ClinVar Variation Id:
196056
ClinVar RCV Id:
RCV000176782
RCV000460701
RCV000620952
RCV001133987
RCV001082646
RCV001133986
RCV001133988
RCV001133989
RCV001133990
RCV001170572
dbSNP Id:
rs72646882
ExAC:
2:179441679 G / T
gnomAD v2:
2-179441679-G-T
gnomAD v3:
2-178576952-G-T
gnomAD v4:
2-178576952-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178576952G>T , CM000664.2:g.178576952G>T | GRCh38 |
| NC_000002.11:g.179441679G>T , CM000664.1:g.179441679G>T | GRCh37 |
| NC_000002.10:g.179149925G>T | NCBI36 |
| NG_011618.3:g.258851C>A , LRG_391:g.258851C>A | |
| NG_051363.1:g.59126G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.61679C>A (TTN) | ENSP00000343764.6:p.Ser20560Tyr | |
| ENST00000342175.11:c.42764C>A (TTN) | ENSP00000340554.6:p.Ser14255Tyr | |
| ENST00000359218.10:c.42563C>A (TTN) | ENSP00000352154.5:p.Ser14188Tyr | |
| ENST00000342175.10:c.42764C>A (TTN) | ENSP00000340554.6:p.Ser14255Tyr | |
| ENST00000342992.10:c.61679C>A (TTN) | ENSP00000343764.6:p.Ser20560Tyr | |
| ENST00000359218.9:c.42563C>A (TTN) | ENSP00000352154.5:p.Ser14188Tyr | |
| ENST00000460472.6:c.42188C>A (TTN) | ENSP00000434586.1:p.Ser14063Tyr | |
| ENST00000589042.5:c.69383C>A (TTN) MANE Select | ENSP00000467141.1:p.Ser23128Tyr | |
| ENST00000591111.5:c.64460C>A (TTN) | ENSP00000465570.1:p.Ser21487Tyr | |
| ENST00000615779.4:c.64460C>A (TTN) | ENSP00000483597.1:p.Ser21487Tyr | |
| NM_001256850.1:c.64460C>A (TTN) | NP_001243779.1:p.Ser21487Tyr | |
| NM_001267550.2:c.69383C>A (TTN) MANE Select | NP_001254479.2:p.Ser23128Tyr | |
| NM_003319.4:c.42188C>A (TTN) | NP_003310.4:p.Ser14063Tyr | |
| NM_133378.4:c.61679C>A (TTN) | NP_596869.4:p.Ser20560Tyr | |
| NM_133432.3:c.42563C>A (TTN) | NP_597676.3:p.Ser14188Tyr | |
| NM_133437.4:c.42764C>A (TTN) | NP_597681.4:p.Ser14255Tyr | |
| NR_038271.1:n.596+5503G>T (TTN-AS1) | ||
| NR_038272.1:n.2044-5620G>T (TTN-AS1) | ||
| XM_011511729.1:c.68480C>A (TTN) | XP_011510031.1:p.Ser22827Tyr | |
| XM_011511730.1:c.42374C>A (TTN) | XP_011510032.1:p.Ser14125Tyr | |
| XM_011511731.1:c.42233C>A (TTN) | XP_011510033.1:p.Ser14078Tyr | |
| XM_017004819.1:c.68276C>A (TTN) | XP_016860308.1:p.Ser22759Tyr | |
| XM_017004820.1:c.63674C>A (TTN) | XP_016860309.1:p.Ser21225Tyr | |
| XM_017004821.1:c.63671C>A (TTN) | XP_016860310.1:p.Ser21224Tyr | |
| XM_017004822.1:c.60713C>A (TTN) | XP_016860311.1:p.Ser20238Tyr | |
| XM_017004823.1:c.42329C>A (TTN) | XP_016860312.1:p.Ser14110Tyr | |
| XM_024453094.1:c.63824C>A (TTN) | XP_024308862.1:p.Ser21275Tyr | |
| XM_024453095.1:c.63821C>A (TTN) | XP_024308863.1:p.Ser21274Tyr | |
| XM_024453096.1:c.63254C>A (TTN) | XP_024308864.1:p.Ser21085Tyr | |
| XM_024453097.1:c.60596C>A (TTN) | XP_024308865.1:p.Ser20199Tyr | |
| XM_024453098.1:c.60515C>A (TTN) | XP_024308866.1:p.Ser20172Tyr | |
| XM_024453099.1:c.42278C>A (TTN) | XP_024308867.1:p.Ser14093Tyr | |
| XM_024453100.1:c.32132C>A (TTN) | XP_024308868.1:p.Ser10711Tyr |