Linked Data
ClinVar Variation Id:
196065
ClinVar RCV Id:
RCV000265766
RCV000300684
RCV000337171
RCV000361406
RCV000397204
RCV000725272
RCV001081316
RCV002326968
RCV002227452
dbSNP Id:
rs187868672
ExAC:
2:179438093 T / C
gnomAD v2:
2-179438093-T-C
gnomAD v3:
2-178573366-T-C
gnomAD v4:
2-178573366-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573366T>C , CM000664.2:g.178573366T>C | GRCh38 |
| NC_000002.11:g.179438093T>C , CM000664.1:g.179438093T>C | GRCh37 |
| NC_000002.10:g.179146339T>C | NCBI36 |
| NG_011618.3:g.262437A>G , LRG_391:g.262437A>G | |
| NG_051363.1:g.55540T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.65062A>G (TTN) | ENSP00000343764.6:p.Asn21688Asp | |
| ENST00000342175.11:c.46147A>G (TTN) | ENSP00000340554.6:p.Asn15383Asp | |
| ENST00000359218.10:c.45946A>G (TTN) | ENSP00000352154.5:p.Asn15316Asp | |
| ENST00000342175.10:c.46147A>G (TTN) | ENSP00000340554.6:p.Asn15383Asp | |
| ENST00000342992.10:c.65062A>G (TTN) | ENSP00000343764.6:p.Asn21688Asp | |
| ENST00000359218.9:c.45946A>G (TTN) | ENSP00000352154.5:p.Asn15316Asp | |
| ENST00000460472.6:c.45571A>G (TTN) | ENSP00000434586.1:p.Asn15191Asp | |
| ENST00000589042.5:c.72766A>G (TTN) MANE Select | ENSP00000467141.1:p.Asn24256Asp | |
| ENST00000591111.5:c.67843A>G (TTN) | ENSP00000465570.1:p.Asn22615Asp | |
| ENST00000615779.4:c.67843A>G (TTN) | ENSP00000483597.1:p.Asn22615Asp | |
| NM_001256850.1:c.67843A>G (TTN) | NP_001243779.1:p.Asn22615Asp | |
| NM_001267550.2:c.72766A>G (TTN) MANE Select | NP_001254479.2:p.Asn24256Asp | |
| NM_003319.4:c.45571A>G (TTN) | NP_003310.4:p.Asn15191Asp | |
| NM_133378.4:c.65062A>G (TTN) | NP_596869.4:p.Asn21688Asp | |
| NM_133432.3:c.45946A>G (TTN) | NP_597676.3:p.Asn15316Asp | |
| NM_133437.4:c.46147A>G (TTN) | NP_597681.4:p.Asn15383Asp | |
| NR_038271.1:n.596+1917T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-9206T>C (TTN-AS1) | ||
| XM_011511729.1:c.71863A>G (TTN) | XP_011510031.1:p.Asn23955Asp | |
| XM_011511730.1:c.45757A>G (TTN) | XP_011510032.1:p.Asn15253Asp | |
| XM_011511731.1:c.45616A>G (TTN) | XP_011510033.1:p.Asn15206Asp | |
| XM_017004819.1:c.71659A>G (TTN) | XP_016860308.1:p.Asn23887Asp | |
| XM_017004820.1:c.67057A>G (TTN) | XP_016860309.1:p.Asn22353Asp | |
| XM_017004821.1:c.67054A>G (TTN) | XP_016860310.1:p.Asn22352Asp | |
| XM_017004822.1:c.64096A>G (TTN) | XP_016860311.1:p.Asn21366Asp | |
| XM_017004823.1:c.45712A>G (TTN) | XP_016860312.1:p.Asn15238Asp | |
| XM_024453094.1:c.67207A>G (TTN) | XP_024308862.1:p.Asn22403Asp | |
| XM_024453095.1:c.67204A>G (TTN) | XP_024308863.1:p.Asn22402Asp | |
| XM_024453096.1:c.66637A>G (TTN) | XP_024308864.1:p.Asn22213Asp | |
| XM_024453097.1:c.63979A>G (TTN) | XP_024308865.1:p.Asn21327Asp | |
| XM_024453098.1:c.63898A>G (TTN) | XP_024308866.1:p.Asn21300Asp | |
| XM_024453099.1:c.45661A>G (TTN) | XP_024308867.1:p.Asn15221Asp | |
| XM_024453100.1:c.35515A>G (TTN) | XP_024308868.1:p.Asn11839Asp |