Linked Data
ClinVar Variation Id:
467415
ClinVar RCV Id:
RCV000538225
RCV000601528
RCV001130429
RCV001131147
RCV001131148
RCV001131149
RCV002330890
RCV001131146
dbSNP Id:
rs183056142
ExAC:
2:179442081 G / A
gnomAD v2:
2-179442081-G-A
gnomAD v3:
2-178577354-G-A
gnomAD v4:
2-178577354-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178577354G>A , CM000664.2:g.178577354G>A | GRCh38 |
| NC_000002.11:g.179442081G>A , CM000664.1:g.179442081G>A | GRCh37 |
| NC_000002.10:g.179150327G>A | NCBI36 |
| NG_011618.3:g.258449C>T , LRG_391:g.258449C>T | |
| NG_051363.1:g.59528G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.61277C>T (TTN) | ENSP00000343764.6:p.Thr20426Ile | |
| ENST00000342175.11:c.42362C>T (TTN) | ENSP00000340554.6:p.Thr14121Ile | |
| ENST00000359218.10:c.42161C>T (TTN) | ENSP00000352154.5:p.Thr14054Ile | |
| ENST00000342175.10:c.42362C>T (TTN) | ENSP00000340554.6:p.Thr14121Ile | |
| ENST00000342992.10:c.61277C>T (TTN) | ENSP00000343764.6:p.Thr20426Ile | |
| ENST00000359218.9:c.42161C>T (TTN) | ENSP00000352154.5:p.Thr14054Ile | |
| ENST00000460472.6:c.41786C>T (TTN) | ENSP00000434586.1:p.Thr13929Ile | |
| ENST00000589042.5:c.68981C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr22994Ile | |
| ENST00000591111.5:c.64058C>T (TTN) | ENSP00000465570.1:p.Thr21353Ile | |
| ENST00000615779.4:c.64058C>T (TTN) | ENSP00000483597.1:p.Thr21353Ile | |
| NM_001256850.1:c.64058C>T (TTN) | NP_001243779.1:p.Thr21353Ile | |
| NM_001267550.2:c.68981C>T (TTN) MANE Select | NP_001254479.2:p.Thr22994Ile | |
| NM_003319.4:c.41786C>T (TTN) | NP_003310.4:p.Thr13929Ile | |
| NM_133378.4:c.61277C>T (TTN) | NP_596869.4:p.Thr20426Ile | |
| NM_133432.3:c.42161C>T (TTN) | NP_597676.3:p.Thr14054Ile | |
| NM_133437.4:c.42362C>T (TTN) | NP_597681.4:p.Thr14121Ile | |
| NR_038271.1:n.596+5905G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-5218G>A (TTN-AS1) | ||
| XM_011511729.1:c.68078C>T (TTN) | XP_011510031.1:p.Thr22693Ile | |
| XM_011511730.1:c.41972C>T (TTN) | XP_011510032.1:p.Thr13991Ile | |
| XM_011511731.1:c.41831C>T (TTN) | XP_011510033.1:p.Thr13944Ile | |
| XM_017004819.1:c.67874C>T (TTN) | XP_016860308.1:p.Thr22625Ile | |
| XM_017004820.1:c.63272C>T (TTN) | XP_016860309.1:p.Thr21091Ile | |
| XM_017004821.1:c.63269C>T (TTN) | XP_016860310.1:p.Thr21090Ile | |
| XM_017004822.1:c.60311C>T (TTN) | XP_016860311.1:p.Thr20104Ile | |
| XM_017004823.1:c.41927C>T (TTN) | XP_016860312.1:p.Thr13976Ile | |
| XM_024453094.1:c.63422C>T (TTN) | XP_024308862.1:p.Thr21141Ile | |
| XM_024453095.1:c.63419C>T (TTN) | XP_024308863.1:p.Thr21140Ile | |
| XM_024453096.1:c.62852C>T (TTN) | XP_024308864.1:p.Thr20951Ile | |
| XM_024453097.1:c.60194C>T (TTN) | XP_024308865.1:p.Thr20065Ile | |
| XM_024453098.1:c.60113C>T (TTN) | XP_024308866.1:p.Thr20038Ile | |
| XM_024453099.1:c.41876C>T (TTN) | XP_024308867.1:p.Thr13959Ile | |
| XM_024453100.1:c.31730C>T (TTN) | XP_024308868.1:p.Thr10577Ile |