Linked Data
ClinVar Variation Id:
96300
ClinVar RCV Id:
RCV000220711
RCV000725697
RCV001130059
RCV001130060
RCV001135089
RCV001135090
RCV001079568
RCV001130061
RCV002326802
dbSNP Id:
rs72646889
ExAC:
2:179440208 G / A
gnomAD v2:
2-179440208-G-A
gnomAD v3:
2-178575481-G-A
gnomAD v4:
2-178575481-G-A
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575481G>A , CM000664.2:g.178575481G>A | GRCh38 |
| NC_000002.11:g.179440208G>A , CM000664.1:g.179440208G>A | GRCh37 |
| NC_000002.10:g.179148454G>A | NCBI36 |
| NG_011618.3:g.260322C>T , LRG_391:g.260322C>T | |
| NG_051363.1:g.57655G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62947C>T (TTN) | ENSP00000343764.6:p.Leu20983= | |
| ENST00000342175.11:c.44032C>T (TTN) | ENSP00000340554.6:p.Leu14678= | |
| ENST00000359218.10:c.43831C>T (TTN) | ENSP00000352154.5:p.Leu14611= | |
| ENST00000342175.10:c.44032C>T (TTN) | ENSP00000340554.6:p.Leu14678= | |
| ENST00000342992.10:c.62947C>T (TTN) | ENSP00000343764.6:p.Leu20983= | |
| ENST00000359218.9:c.43831C>T (TTN) | ENSP00000352154.5:p.Leu14611= | |
| ENST00000460472.6:c.43456C>T (TTN) | ENSP00000434586.1:p.Leu14486= | |
| ENST00000589042.5:c.70651C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu23551= | |
| ENST00000591111.5:c.65728C>T (TTN) | ENSP00000465570.1:p.Leu21910= | |
| ENST00000615779.4:c.65728C>T (TTN) | ENSP00000483597.1:p.Leu21910= | |
| NM_001256850.1:c.65728C>T (TTN) | NP_001243779.1:p.Leu21910= | |
| NM_001267550.2:c.70651C>T (TTN) MANE Select | NP_001254479.2:p.Leu23551= | |
| NM_003319.4:c.43456C>T (TTN) | NP_003310.4:p.Leu14486= | |
| NM_133378.4:c.62947C>T (TTN) | NP_596869.4:p.Leu20983= | |
| NM_133432.3:c.43831C>T (TTN) | NP_597676.3:p.Leu14611= | |
| NM_133437.4:c.44032C>T (TTN) | NP_597681.4:p.Leu14678= | |
| NR_038271.1:n.596+4032G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-7091G>A (TTN-AS1) | ||
| XM_011511729.1:c.69748C>T (TTN) | XP_011510031.1:p.Leu23250= | |
| XM_011511730.1:c.43642C>T (TTN) | XP_011510032.1:p.Leu14548= | |
| XM_011511731.1:c.43501C>T (TTN) | XP_011510033.1:p.Leu14501= | |
| XM_017004819.1:c.69544C>T (TTN) | XP_016860308.1:p.Leu23182= | |
| XM_017004820.1:c.64942C>T (TTN) | XP_016860309.1:p.Leu21648= | |
| XM_017004821.1:c.64939C>T (TTN) | XP_016860310.1:p.Leu21647= | |
| XM_017004822.1:c.61981C>T (TTN) | XP_016860311.1:p.Leu20661= | |
| XM_017004823.1:c.43597C>T (TTN) | XP_016860312.1:p.Leu14533= | |
| XM_024453094.1:c.65092C>T (TTN) | XP_024308862.1:p.Leu21698= | |
| XM_024453095.1:c.65089C>T (TTN) | XP_024308863.1:p.Leu21697= | |
| XM_024453096.1:c.64522C>T (TTN) | XP_024308864.1:p.Leu21508= | |
| XM_024453097.1:c.61864C>T (TTN) | XP_024308865.1:p.Leu20622= | |
| XM_024453098.1:c.61783C>T (TTN) | XP_024308866.1:p.Leu20595= | |
| XM_024453099.1:c.43546C>T (TTN) | XP_024308867.1:p.Leu14516= | |
| XM_024453100.1:c.33400C>T (TTN) | XP_024308868.1:p.Leu11134= |