Linked Data
ClinVar Variation Id:
203074
dbSNP Id:
rs200716930
ExAC:
2:179397433 G / A
gnomAD v2:
2-179397433-G-A
gnomAD v3:
2-178532706-G-A
gnomAD v4:
2-178532706-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532706G>A , CM000664.2:g.178532706G>A | GRCh38 |
| NC_000002.11:g.179397433G>A , CM000664.1:g.179397433G>A | GRCh37 |
| NC_000002.10:g.179105679G>A | NCBI36 |
| NG_011618.3:g.303097C>T , LRG_391:g.303097C>T | |
| NG_051363.1:g.14880G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96205C>T (TTN) | ENSP00000343764.6:p.Arg32069Trp | |
| ENST00000342175.11:c.77290C>T (TTN) | ENSP00000340554.6:p.Arg25764Trp | |
| ENST00000359218.10:c.77089C>T (TTN) | ENSP00000352154.5:p.Arg25697Trp | |
| ENST00000342175.10:c.77290C>T (TTN) | ENSP00000340554.6:p.Arg25764Trp | |
| ENST00000342992.10:c.96205C>T (TTN) | ENSP00000343764.6:p.Arg32069Trp | |
| ENST00000359218.9:c.77089C>T (TTN) | ENSP00000352154.5:p.Arg25697Trp | |
| ENST00000460472.6:c.76714C>T (TTN) | ENSP00000434586.1:p.Arg25572Trp | |
| ENST00000589042.5:c.103909C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg34637Trp | |
| ENST00000591111.5:c.98986C>T (TTN) | ENSP00000465570.1:p.Arg32996Trp | |
| ENST00000615779.4:c.98986C>T (TTN) | ENSP00000483597.1:p.Arg32996Trp | |
| NM_001256850.1:c.98986C>T (TTN) | NP_001243779.1:p.Arg32996Trp | |
| NM_001267550.2:c.103909C>T (TTN) MANE Select | NP_001254479.2:p.Arg34637Trp | |
| NM_003319.4:c.76714C>T (TTN) | NP_003310.4:p.Arg25572Trp | |
| NM_133378.4:c.96205C>T (TTN) | NP_596869.4:p.Arg32069Trp | |
| NM_133432.3:c.77089C>T (TTN) | NP_597676.3:p.Arg25697Trp | |
| NM_133437.4:c.77290C>T (TTN) | NP_597681.4:p.Arg25764Trp | |
| NR_038271.1:n.446+9070G>A (TTN-AS1) | ||
| NR_038272.1:n.220-3026G>A (TTN-AS1) | ||
| XM_011511729.1:c.103006C>T (TTN) | XP_011510031.1:p.Arg34336Trp | |
| XM_011511730.1:c.76900C>T (TTN) | XP_011510032.1:p.Arg25634Trp | |
| XM_011511731.1:c.76759C>T (TTN) | XP_011510033.1:p.Arg25587Trp | |
| XM_017004819.1:c.102802C>T (TTN) | XP_016860308.1:p.Arg34268Trp | |
| XM_017004820.1:c.98200C>T (TTN) | XP_016860309.1:p.Arg32734Trp | |
| XM_017004821.1:c.98197C>T (TTN) | XP_016860310.1:p.Arg32733Trp | |
| XM_017004822.1:c.95239C>T (TTN) | XP_016860311.1:p.Arg31747Trp | |
| XM_017004823.1:c.76855C>T (TTN) | XP_016860312.1:p.Arg25619Trp | |
| XM_024453094.1:c.98350C>T (TTN) | XP_024308862.1:p.Arg32784Trp | |
| XM_024453095.1:c.98347C>T (TTN) | XP_024308863.1:p.Arg32783Trp | |
| XM_024453096.1:c.97780C>T (TTN) | XP_024308864.1:p.Arg32594Trp | |
| XM_024453097.1:c.95122C>T (TTN) | XP_024308865.1:p.Arg31708Trp | |
| XM_024453098.1:c.95041C>T (TTN) | XP_024308866.1:p.Arg31681Trp | |
| XM_024453099.1:c.76804C>T (TTN) | XP_024308867.1:p.Arg25602Trp | |
| XM_024453100.1:c.66658C>T (TTN) | XP_024308868.1:p.Arg22220Trp |