Linked Data
ClinVar Variation Id:
290714
ClinVar RCV Id:
RCV000307668
RCV000643502
RCV001133978
RCV001133979
RCV001705434
RCV001133980
RCV001133981
RCV001133982
RCV003165779
dbSNP Id:
rs200992636
ExAC:
2:179427800 G / A
gnomAD v2:
2-179427800-G-A
gnomAD v3:
2-178563073-G-A
gnomAD v4:
2-178563073-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178563073G>A , CM000664.2:g.178563073G>A | GRCh38 |
| NC_000002.11:g.179427800G>A , CM000664.1:g.179427800G>A | GRCh37 |
| NC_000002.10:g.179136046G>A | NCBI36 |
| NG_011618.3:g.272730C>T , LRG_391:g.272730C>T | |
| NG_051363.1:g.45247G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75355C>T (TTN) | ENSP00000343764.6:p.Leu25119= | |
| ENST00000342175.11:c.56440C>T (TTN) | ENSP00000340554.6:p.Leu18814= | |
| ENST00000359218.10:c.56239C>T (TTN) | ENSP00000352154.5:p.Leu18747= | |
| ENST00000342175.10:c.56440C>T (TTN) | ENSP00000340554.6:p.Leu18814= | |
| ENST00000342992.10:c.75355C>T (TTN) | ENSP00000343764.6:p.Leu25119= | |
| ENST00000359218.9:c.56239C>T (TTN) | ENSP00000352154.5:p.Leu18747= | |
| ENST00000460472.6:c.55864C>T (TTN) | ENSP00000434586.1:p.Leu18622= | |
| ENST00000589042.5:c.83059C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu27687= | |
| ENST00000591111.5:c.78136C>T (TTN) | ENSP00000465570.1:p.Leu26046= | |
| ENST00000615779.4:c.78136C>T (TTN) | ENSP00000483597.1:p.Leu26046= | |
| NM_001256850.1:c.78136C>T (TTN) | NP_001243779.1:p.Leu26046= | |
| NM_001267550.2:c.83059C>T (TTN) MANE Select | NP_001254479.2:p.Leu27687= | |
| NM_003319.4:c.55864C>T (TTN) | NP_003310.4:p.Leu18622= | |
| NM_133378.4:c.75355C>T (TTN) | NP_596869.4:p.Leu25119= | |
| NM_133432.3:c.56239C>T (TTN) | NP_597676.3:p.Leu18747= | |
| NM_133437.4:c.56440C>T (TTN) | NP_597681.4:p.Leu18814= | |
| NR_038271.1:n.447-8227G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-19499G>A (TTN-AS1) | ||
| XM_011511729.1:c.82156C>T (TTN) | XP_011510031.1:p.Leu27386= | |
| XM_011511730.1:c.56050C>T (TTN) | XP_011510032.1:p.Leu18684= | |
| XM_011511731.1:c.55909C>T (TTN) | XP_011510033.1:p.Leu18637= | |
| XM_017004819.1:c.81952C>T (TTN) | XP_016860308.1:p.Leu27318= | |
| XM_017004820.1:c.77350C>T (TTN) | XP_016860309.1:p.Leu25784= | |
| XM_017004821.1:c.77347C>T (TTN) | XP_016860310.1:p.Leu25783= | |
| XM_017004822.1:c.74389C>T (TTN) | XP_016860311.1:p.Leu24797= | |
| XM_017004823.1:c.56005C>T (TTN) | XP_016860312.1:p.Leu18669= | |
| XM_024453094.1:c.77500C>T (TTN) | XP_024308862.1:p.Leu25834= | |
| XM_024453095.1:c.77497C>T (TTN) | XP_024308863.1:p.Leu25833= | |
| XM_024453096.1:c.76930C>T (TTN) | XP_024308864.1:p.Leu25644= | |
| XM_024453097.1:c.74272C>T (TTN) | XP_024308865.1:p.Leu24758= | |
| XM_024453098.1:c.74191C>T (TTN) | XP_024308866.1:p.Leu24731= | |
| XM_024453099.1:c.55954C>T (TTN) | XP_024308867.1:p.Leu18652= | |
| XM_024453100.1:c.45808C>T (TTN) | XP_024308868.1:p.Leu15270= |