Linked Data
ClinVar Variation Id:
47308
ClinVar RCV Id:
RCV000040578
RCV000205454
RCV000249434
RCV000300762
RCV000313330
RCV000355560
RCV000393450
RCV000393452
RCV001081981
RCV001170340
RCV004534926
RCV002226451
RCV003993768
dbSNP Id:
rs56169243
ExAC:
2:179438727 A / G
gnomAD v2:
2-179438727-A-G
gnomAD v3:
2-178574000-A-G
gnomAD v4:
2-178574000-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178574000A>G , CM000664.2:g.178574000A>G | GRCh38 |
| NC_000002.11:g.179438727A>G , CM000664.1:g.179438727A>G | GRCh37 |
| NC_000002.10:g.179146973A>G | NCBI36 |
| NG_011618.3:g.261803T>C , LRG_391:g.261803T>C | |
| NG_051363.1:g.56174A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64428T>C (TTN) | ENSP00000343764.6:p.Gly21476= | |
| ENST00000342175.11:c.45513T>C (TTN) | ENSP00000340554.6:p.Gly15171= | |
| ENST00000359218.10:c.45312T>C (TTN) | ENSP00000352154.5:p.Gly15104= | |
| ENST00000342175.10:c.45513T>C (TTN) | ENSP00000340554.6:p.Gly15171= | |
| ENST00000342992.10:c.64428T>C (TTN) | ENSP00000343764.6:p.Gly21476= | |
| ENST00000359218.9:c.45312T>C (TTN) | ENSP00000352154.5:p.Gly15104= | |
| ENST00000460472.6:c.44937T>C (TTN) | ENSP00000434586.1:p.Gly14979= | |
| ENST00000589042.5:c.72132T>C (TTN) MANE Select | ENSP00000467141.1:p.Gly24044= | |
| ENST00000591111.5:c.67209T>C (TTN) | ENSP00000465570.1:p.Gly22403= | |
| ENST00000615779.4:c.67209T>C (TTN) | ENSP00000483597.1:p.Gly22403= | |
| NM_001256850.1:c.67209T>C (TTN) | NP_001243779.1:p.Gly22403= | |
| NM_001267550.2:c.72132T>C (TTN) MANE Select | NP_001254479.2:p.Gly24044= | |
| NM_003319.4:c.44937T>C (TTN) | NP_003310.4:p.Gly14979= | |
| NM_133378.4:c.64428T>C (TTN) | NP_596869.4:p.Gly21476= | |
| NM_133432.3:c.45312T>C (TTN) | NP_597676.3:p.Gly15104= | |
| NM_133437.4:c.45513T>C (TTN) | NP_597681.4:p.Gly15171= | |
| NR_038271.1:n.596+2551A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-8572A>G (TTN-AS1) | ||
| XM_011511729.1:c.71229T>C (TTN) | XP_011510031.1:p.Gly23743= | |
| XM_011511730.1:c.45123T>C (TTN) | XP_011510032.1:p.Gly15041= | |
| XM_011511731.1:c.44982T>C (TTN) | XP_011510033.1:p.Gly14994= | |
| XM_017004819.1:c.71025T>C (TTN) | XP_016860308.1:p.Gly23675= | |
| XM_017004820.1:c.66423T>C (TTN) | XP_016860309.1:p.Gly22141= | |
| XM_017004821.1:c.66420T>C (TTN) | XP_016860310.1:p.Gly22140= | |
| XM_017004822.1:c.63462T>C (TTN) | XP_016860311.1:p.Gly21154= | |
| XM_017004823.1:c.45078T>C (TTN) | XP_016860312.1:p.Gly15026= | |
| XM_024453094.1:c.66573T>C (TTN) | XP_024308862.1:p.Gly22191= | |
| XM_024453095.1:c.66570T>C (TTN) | XP_024308863.1:p.Gly22190= | |
| XM_024453096.1:c.66003T>C (TTN) | XP_024308864.1:p.Gly22001= | |
| XM_024453097.1:c.63345T>C (TTN) | XP_024308865.1:p.Gly21115= | |
| XM_024453098.1:c.63264T>C (TTN) | XP_024308866.1:p.Gly21088= | |
| XM_024453099.1:c.45027T>C (TTN) | XP_024308867.1:p.Gly15009= | |
| XM_024453100.1:c.34881T>C (TTN) | XP_024308868.1:p.Gly11627= |