ClinVar RCV:
ClinVar Variation:
COSMIC:
COSM3757796
COSM3757797
COSM3757798
COSM3757799
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04441165 (NFE)
Genomes Max Group AF
0.03971057 (NFE)
Exomes Max Group AF
0.04463081 (NFE)
Revel Score:
ENST00000342992
0.360
ENST00000460472
0.360
ENST00000342175
0.360
ENST00000359218
0.360
ENST00000356127
0.360
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584404G>A , CM000664.2:g.178584404G>A | GRCh38 |
| NC_000002.11:g.179449131G>A , CM000664.1:g.179449131G>A | GRCh37 |
| NC_000002.10:g.179157377G>A | NCBI36 |
| NG_011618.3:g.251399C>T , LRG_391:g.251399C>T | |
| NG_051363.1:g.66578G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57443C>T (TTN) | ENSP00000343764.6:p.Ser19148Leu | |
| ENST00000342175.11:c.38528C>T (TTN) | ENSP00000340554.6:p.Ser12843Leu | |
| ENST00000359218.10:c.38327C>T (TTN) | ENSP00000352154.5:p.Ser12776Leu | |
| ENST00000342175.10:c.38528C>T (TTN) | ENSP00000340554.6:p.Ser12843Leu | |
| ENST00000342992.10:c.57443C>T (TTN) | ENSP00000343764.6:p.Ser19148Leu | |
| ENST00000359218.9:c.38327C>T (TTN) | ENSP00000352154.5:p.Ser12776Leu | |
| ENST00000460472.6:c.37952C>T (TTN) | ENSP00000434586.1:p.Ser12651Leu | |
| ENST00000589042.5:c.65147C>T (TTN) MANE Select | ENSP00000467141.1:p.Ser21716Leu | |
| ENST00000591111.5:c.60224C>T (TTN) | ENSP00000465570.1:p.Ser20075Leu | |
| ENST00000615779.4:c.60224C>T (TTN) | ENSP00000483597.1:p.Ser20075Leu | |
| NM_001256850.1:c.60224C>T (TTN) | NP_001243779.1:p.Ser20075Leu | |
| NM_001267550.2:c.65147C>T (TTN) MANE Select | NP_001254479.2:p.Ser21716Leu | |
| NM_003319.4:c.37952C>T (TTN) | NP_003310.4:p.Ser12651Leu | |
| NM_133378.4:c.57443C>T (TTN) | NP_596869.4:p.Ser19148Leu | |
| NM_133432.3:c.38327C>T (TTN) | NP_597676.3:p.Ser12776Leu | |
| NM_133437.4:c.38528C>T (TTN) | NP_597681.4:p.Ser12843Leu | |
| NR_038271.1:n.596+12955G>A (TTN-AS1) | ||
| NR_038272.1:n.2768-169G>A (TTN-AS1) | ||
| XM_011511729.1:c.64244C>T (TTN) | XP_011510031.1:p.Ser21415Leu | |
| XM_011511730.1:c.38138C>T (TTN) | XP_011510032.1:p.Ser12713Leu | |
| XM_011511731.1:c.37997C>T (TTN) | XP_011510033.1:p.Ser12666Leu | |
| XM_017004819.1:c.64040C>T (TTN) | XP_016860308.1:p.Ser21347Leu | |
| XM_017004820.1:c.59438C>T (TTN) | XP_016860309.1:p.Ser19813Leu | |
| XM_017004821.1:c.59435C>T (TTN) | XP_016860310.1:p.Ser19812Leu | |
| XM_017004822.1:c.56477C>T (TTN) | XP_016860311.1:p.Ser18826Leu | |
| XM_017004823.1:c.38093C>T (TTN) | XP_016860312.1:p.Ser12698Leu | |
| XM_024453094.1:c.59588C>T (TTN) | XP_024308862.1:p.Ser19863Leu | |
| XM_024453095.1:c.59585C>T (TTN) | XP_024308863.1:p.Ser19862Leu | |
| XM_024453096.1:c.59018C>T (TTN) | XP_024308864.1:p.Ser19673Leu | |
| XM_024453097.1:c.56360C>T (TTN) | XP_024308865.1:p.Ser18787Leu | |
| XM_024453098.1:c.56279C>T (TTN) | XP_024308866.1:p.Ser18760Leu | |
| XM_024453099.1:c.38042C>T (TTN) | XP_024308867.1:p.Ser12681Leu | |
| XM_024453100.1:c.27896C>T (TTN) | XP_024308868.1:p.Ser9299Leu |