Linked Data
ClinVar Variation Id:
47185
ClinVar RCV Id:
RCV000040455
RCV000172650
RCV000263771
RCV000317683
RCV000246008
RCV000387122
RCV000292758
RCV000458325
RCV000318648
RCV003149651
dbSNP Id:
rs200689750
ExAC:
2:179453880 T / C
gnomAD v2:
2-179453880-T-C
gnomAD v3:
2-178589153-T-C
gnomAD v4:
2-178589153-T-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589153T>C , CM000664.2:g.178589153T>C | GRCh38 |
| NC_000002.11:g.179453880T>C , CM000664.1:g.179453880T>C | GRCh37 |
| NC_000002.10:g.179162126T>C | NCBI36 |
| NG_011618.3:g.246650A>G , LRG_391:g.246650A>G | |
| NG_051363.1:g.71327T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.54868A>G (TTN) | ENSP00000343764.6:p.Thr18290Ala | |
| ENST00000342175.11:c.35953A>G (TTN) | ENSP00000340554.6:p.Thr11985Ala | |
| ENST00000359218.10:c.35752A>G (TTN) | ENSP00000352154.5:p.Thr11918Ala | |
| ENST00000342175.10:c.35953A>G (TTN) | ENSP00000340554.6:p.Thr11985Ala | |
| ENST00000342992.10:c.54868A>G (TTN) | ENSP00000343764.6:p.Thr18290Ala | |
| ENST00000359218.9:c.35752A>G (TTN) | ENSP00000352154.5:p.Thr11918Ala | |
| ENST00000460472.6:c.35377A>G (TTN) | ENSP00000434586.1:p.Thr11793Ala | |
| ENST00000589042.5:c.62572A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr20858Ala | |
| ENST00000591111.5:c.57649A>G (TTN) | ENSP00000465570.1:p.Thr19217Ala | |
| ENST00000615779.4:c.57649A>G (TTN) | ENSP00000483597.1:p.Thr19217Ala | |
| NM_001256850.1:c.57649A>G (TTN) | NP_001243779.1:p.Thr19217Ala | |
| NM_001267550.2:c.62572A>G (TTN) MANE Select | NP_001254479.2:p.Thr20858Ala | |
| NM_003319.4:c.35377A>G (TTN) | NP_003310.4:p.Thr11793Ala | |
| NM_133378.4:c.54868A>G (TTN) | NP_596869.4:p.Thr18290Ala | |
| NM_133432.3:c.35752A>G (TTN) | NP_597676.3:p.Thr11918Ala | |
| NM_133437.4:c.35953A>G (TTN) | NP_597681.4:p.Thr11985Ala | |
| NR_038271.1:n.597-8443T>C (TTN-AS1) | ||
| NR_038272.1:n.3189-1986T>C (TTN-AS1) | ||
| XM_011511729.1:c.61669A>G (TTN) | XP_011510031.1:p.Thr20557Ala | |
| XM_011511730.1:c.35563A>G (TTN) | XP_011510032.1:p.Thr11855Ala | |
| XM_011511731.1:c.35422A>G (TTN) | XP_011510033.1:p.Thr11808Ala | |
| XM_017004819.1:c.61465A>G (TTN) | XP_016860308.1:p.Thr20489Ala | |
| XM_017004820.1:c.56863A>G (TTN) | XP_016860309.1:p.Thr18955Ala | |
| XM_017004821.1:c.56860A>G (TTN) | XP_016860310.1:p.Thr18954Ala | |
| XM_017004822.1:c.53902A>G (TTN) | XP_016860311.1:p.Thr17968Ala | |
| XM_017004823.1:c.35518A>G (TTN) | XP_016860312.1:p.Thr11840Ala | |
| XM_024453094.1:c.57013A>G (TTN) | XP_024308862.1:p.Thr19005Ala | |
| XM_024453095.1:c.57010A>G (TTN) | XP_024308863.1:p.Thr19004Ala | |
| XM_024453096.1:c.56443A>G (TTN) | XP_024308864.1:p.Thr18815Ala | |
| XM_024453097.1:c.53785A>G (TTN) | XP_024308865.1:p.Thr17929Ala | |
| XM_024453098.1:c.53704A>G (TTN) | XP_024308866.1:p.Thr17902Ala | |
| XM_024453099.1:c.35467A>G (TTN) | XP_024308867.1:p.Thr11823Ala | |
| XM_024453100.1:c.25321A>G (TTN) | XP_024308868.1:p.Thr8441Ala |