Linked Data
ClinVar Variation Id:
47510
ClinVar RCV Id:
RCV000040779
RCV001133722
RCV001133723
RCV001133724
RCV001135210
RCV001135211
RCV001529821
RCV002054797
dbSNP Id:
rs200847757
ExAC:
2:179415013 G / A
gnomAD v2:
2-179415013-G-A
gnomAD v3:
2-178550286-G-A
gnomAD v4:
2-178550286-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178550286G>A , CM000664.2:g.178550286G>A | GRCh38 |
| NC_000002.11:g.179415013G>A , CM000664.1:g.179415013G>A | GRCh37 |
| NC_000002.10:g.179123259G>A | NCBI36 |
| NG_011618.3:g.285517C>T , LRG_391:g.285517C>T | |
| NG_051363.1:g.32460G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83861-13C>T (TTN) | ENSP00000343764.6:n.83861-13C>T | |
| ENST00000342175.11:c.64946-13C>T (TTN) | ENSP00000340554.6:n.64946-13C>T | |
| ENST00000359218.10:c.64745-13C>T (TTN) | ENSP00000352154.5:n.64745-13C>T | |
| ENST00000342175.10:c.64946-13C>T (TTN) | ENSP00000340554.6:n.64946-13C>T | |
| ENST00000342992.10:c.83861-13C>T (TTN) | ENSP00000343764.6:n.83861-13C>T | |
| ENST00000359218.9:c.64745-13C>T (TTN) | ENSP00000352154.5:n.64745-13C>T | |
| ENST00000460472.6:c.64370-13C>T (TTN) | ENSP00000434586.1:n.64370-13C>T | |
| ENST00000589042.5:c.91565-13C>T (TTN) MANE Select | ENSP00000467141.1:n.91565-13C>T | |
| ENST00000591111.5:c.86642-13C>T (TTN) | ENSP00000465570.1:n.86642-13C>T | |
| ENST00000615779.4:c.86642-13C>T (TTN) | ENSP00000483597.1:n.86642-13C>T | |
| NM_001256850.1:c.86642-13C>T (TTN) | NP_001243779.1:n.86642-13C>T | |
| NM_001267550.2:c.91565-13C>T (TTN) MANE Select | NP_001254479.2:n.91565-13C>T | |
| NM_003319.4:c.64370-13C>T (TTN) | NP_003310.4:n.64370-13C>T | |
| NM_133378.4:c.83861-13C>T (TTN) | NP_596869.4:n.83861-13C>T | |
| NM_133432.3:c.64745-13C>T (TTN) | NP_597676.3:n.64745-13C>T | |
| NM_133437.4:c.64946-13C>T (TTN) | NP_597681.4:n.64946-13C>T | |
| NR_038271.1:n.447-21014G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+7925G>A (TTN-AS1) | ||
| XM_011511729.1:c.90662-13C>T (TTN) | XP_011510031.1:n.90662-13C>T | |
| XM_011511730.1:c.64556-13C>T (TTN) | XP_011510032.1:n.64556-13C>T | |
| XM_011511731.1:c.64415-13C>T (TTN) | XP_011510033.1:n.64415-13C>T | |
| XM_017004819.1:c.90458-13C>T (TTN) | XP_016860308.1:n.90458-13C>T | |
| XM_017004820.1:c.85856-13C>T (TTN) | XP_016860309.1:n.85856-13C>T | |
| XM_017004821.1:c.85853-13C>T (TTN) | XP_016860310.1:n.85853-13C>T | |
| XM_017004822.1:c.82895-13C>T (TTN) | XP_016860311.1:n.82895-13C>T | |
| XM_017004823.1:c.64511-13C>T (TTN) | XP_016860312.1:n.64511-13C>T | |
| XM_024453094.1:c.86006-13C>T (TTN) | XP_024308862.1:n.86006-13C>T | |
| XM_024453095.1:c.86003-13C>T (TTN) | XP_024308863.1:n.86003-13C>T | |
| XM_024453096.1:c.85436-13C>T (TTN) | XP_024308864.1:n.85436-13C>T | |
| XM_024453097.1:c.82778-13C>T (TTN) | XP_024308865.1:n.82778-13C>T | |
| XM_024453098.1:c.82697-13C>T (TTN) | XP_024308866.1:n.82697-13C>T | |
| XM_024453099.1:c.64460-13C>T (TTN) | XP_024308867.1:n.64460-13C>T | |
| XM_024453100.1:c.54314-13C>T (TTN) | XP_024308868.1:n.54314-13C>T |