Linked Data
ClinVar Variation Id:
47006
ClinVar RCV Id:
RCV000040276
RCV000287419
RCV000272075
RCV000322491
RCV000342339
RCV000377170
RCV000470629
RCV000617450
RCV001719770
RCV004534900
dbSNP Id:
rs115813214
ExAC:
2:179483397 G / A
gnomAD v2:
2-179483397-G-A
gnomAD v3:
2-178618670-G-A
gnomAD v4:
2-178618670-G-A
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178618670G>A , CM000664.2:g.178618670G>A | GRCh38 |
| NC_000002.11:g.179483397G>A , CM000664.1:g.179483397G>A | GRCh37 |
| NC_000002.10:g.179191642G>A | NCBI36 |
| NG_011618.3:g.217133C>T , LRG_391:g.217133C>T | |
| NG_051363.1:g.100844G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39176C>T (TTN) | ENSP00000343764.6:p.Ala13059Val | |
| ENST00000342175.11:c.20261C>T (TTN) | ENSP00000340554.6:p.Ala6754Val | |
| ENST00000359218.10:c.20060C>T (TTN) | ENSP00000352154.5:p.Ala6687Val | |
| ENST00000342175.10:c.20261C>T (TTN) | ENSP00000340554.6:p.Ala6754Val | |
| ENST00000342992.10:c.39176C>T (TTN) | ENSP00000343764.6:p.Ala13059Val | |
| ENST00000359218.9:c.20060C>T (TTN) | ENSP00000352154.5:p.Ala6687Val | |
| ENST00000460472.6:c.19685C>T (TTN) | ENSP00000434586.1:p.Ala6562Val | |
| ENST00000589042.5:c.46880C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala15627Val | |
| ENST00000591111.5:c.41957C>T (TTN) | ENSP00000465570.1:p.Ala13986Val | |
| ENST00000615779.4:c.41957C>T (TTN) | ENSP00000483597.1:p.Ala13986Val | |
| NM_001256850.1:c.41957C>T (TTN) | NP_001243779.1:p.Ala13986Val | |
| NM_001267550.2:c.46880C>T (TTN) MANE Select | NP_001254479.2:p.Ala15627Val | |
| NM_003319.4:c.19685C>T (TTN) | NP_003310.4:p.Ala6562Val | |
| NM_133378.4:c.39176C>T (TTN) | NP_596869.4:p.Ala13059Val | |
| NM_133432.3:c.20060C>T (TTN) | NP_597676.3:p.Ala6687Val | |
| NM_133437.4:c.20261C>T (TTN) | NP_597681.4:p.Ala6754Val | |
| NR_038271.1:n.1605-1083G>A (TTN-AS1) | ||
| XM_011511729.1:c.45977C>T (TTN) | XP_011510031.1:p.Ala15326Val | |
| XM_011511730.1:c.19871C>T (TTN) | XP_011510032.1:p.Ala6624Val | |
| XM_011511731.1:c.19730C>T (TTN) | XP_011510033.1:p.Ala6577Val | |
| XM_017004819.1:c.45773C>T (TTN) | XP_016860308.1:p.Ala15258Val | |
| XM_017004820.1:c.41171C>T (TTN) | XP_016860309.1:p.Ala13724Val | |
| XM_017004821.1:c.41168C>T (TTN) | XP_016860310.1:p.Ala13723Val | |
| XM_017004822.1:c.38210C>T (TTN) | XP_016860311.1:p.Ala12737Val | |
| XM_017004823.1:c.19826C>T (TTN) | XP_016860312.1:p.Ala6609Val | |
| XM_024453094.1:c.41321C>T (TTN) | XP_024308862.1:p.Ala13774Val | |
| XM_024453095.1:c.41318C>T (TTN) | XP_024308863.1:p.Ala13773Val | |
| XM_024453096.1:c.40751C>T (TTN) | XP_024308864.1:p.Ala13584Val | |
| XM_024453097.1:c.38093C>T (TTN) | XP_024308865.1:p.Ala12698Val | |
| XM_024453098.1:c.38012C>T (TTN) | XP_024308866.1:p.Ala12671Val | |
| XM_024453099.1:c.19775C>T (TTN) | XP_024308867.1:p.Ala6592Val | |
| XM_024453100.1:c.9629C>T (TTN) | XP_024308868.1:p.Ala3210Val |