Linked Data
ClinVar Variation Id:
202952
ClinVar RCV Id:
RCV000223660
RCV000301842
RCV000307858
RCV000359092
RCV000404508
RCV000526235
RCV000396053
RCV000727677
RCV000509283
RCV002354516
RCV004537558
dbSNP Id:
rs200513274
ExAC:
2:179419354 G / A
gnomAD v2:
2-179419354-G-A
gnomAD v3:
2-178554627-G-A
gnomAD v4:
2-178554627-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178554627G>A , CM000664.2:g.178554627G>A | GRCh38 |
| NC_000002.11:g.179419354G>A , CM000664.1:g.179419354G>A | GRCh37 |
| NC_000002.10:g.179127600G>A | NCBI36 |
| NG_011618.3:g.281176C>T , LRG_391:g.281176C>T | |
| NG_051363.1:g.36801G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.81016C>T (TTN) | ENSP00000343764.6:p.Arg27006Cys | |
| ENST00000342175.11:c.62101C>T (TTN) | ENSP00000340554.6:p.Arg20701Cys | |
| ENST00000359218.10:c.61900C>T (TTN) | ENSP00000352154.5:p.Arg20634Cys | |
| ENST00000342175.10:c.62101C>T (TTN) | ENSP00000340554.6:p.Arg20701Cys | |
| ENST00000342992.10:c.81016C>T (TTN) | ENSP00000343764.6:p.Arg27006Cys | |
| ENST00000359218.9:c.61900C>T (TTN) | ENSP00000352154.5:p.Arg20634Cys | |
| ENST00000460472.6:c.61525C>T (TTN) | ENSP00000434586.1:p.Arg20509Cys | |
| ENST00000589042.5:c.88720C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg29574Cys | |
| ENST00000591111.5:c.83797C>T (TTN) | ENSP00000465570.1:p.Arg27933Cys | |
| ENST00000615779.4:c.83797C>T (TTN) | ENSP00000483597.1:p.Arg27933Cys | |
| NM_001256850.1:c.83797C>T (TTN) | NP_001243779.1:p.Arg27933Cys | |
| NM_001267550.2:c.88720C>T (TTN) MANE Select | NP_001254479.2:p.Arg29574Cys | |
| NM_003319.4:c.61525C>T (TTN) | NP_003310.4:p.Arg20509Cys | |
| NM_133378.4:c.81016C>T (TTN) | NP_596869.4:p.Arg27006Cys | |
| NM_133432.3:c.61900C>T (TTN) | NP_597676.3:p.Arg20634Cys | |
| NM_133437.4:c.62101C>T (TTN) | NP_597681.4:p.Arg20701Cys | |
| NR_038271.1:n.447-16673G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+12266G>A (TTN-AS1) | ||
| XM_011511729.1:c.87817C>T (TTN) | XP_011510031.1:p.Arg29273Cys | |
| XM_011511730.1:c.61711C>T (TTN) | XP_011510032.1:p.Arg20571Cys | |
| XM_011511731.1:c.61570C>T (TTN) | XP_011510033.1:p.Arg20524Cys | |
| XM_017004819.1:c.87613C>T (TTN) | XP_016860308.1:p.Arg29205Cys | |
| XM_017004820.1:c.83011C>T (TTN) | XP_016860309.1:p.Arg27671Cys | |
| XM_017004821.1:c.83008C>T (TTN) | XP_016860310.1:p.Arg27670Cys | |
| XM_017004822.1:c.80050C>T (TTN) | XP_016860311.1:p.Arg26684Cys | |
| XM_017004823.1:c.61666C>T (TTN) | XP_016860312.1:p.Arg20556Cys | |
| XM_024453094.1:c.83161C>T (TTN) | XP_024308862.1:p.Arg27721Cys | |
| XM_024453095.1:c.83158C>T (TTN) | XP_024308863.1:p.Arg27720Cys | |
| XM_024453096.1:c.82591C>T (TTN) | XP_024308864.1:p.Arg27531Cys | |
| XM_024453097.1:c.79933C>T (TTN) | XP_024308865.1:p.Arg26645Cys | |
| XM_024453098.1:c.79852C>T (TTN) | XP_024308866.1:p.Arg26618Cys | |
| XM_024453099.1:c.61615C>T (TTN) | XP_024308867.1:p.Arg20539Cys | |
| XM_024453100.1:c.51469C>T (TTN) | XP_024308868.1:p.Arg17157Cys |