Linked Data
ClinVar Variation Id:
47328
ClinVar RCV Id:
RCV000040598
RCV000534367
RCV000621675
RCV000724394
RCV000852812
RCV001293173
RCV003486596
dbSNP Id:
rs373527654
ExAC:
2:179436332 T / C
gnomAD v2:
2-179436332-T-C
gnomAD v3:
2-178571605-T-C
gnomAD v4:
2-178571605-T-C
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178571605T>C , CM000664.2:g.178571605T>C | GRCh38 |
| NC_000002.11:g.179436332T>C , CM000664.1:g.179436332T>C | GRCh37 |
| NC_000002.10:g.179144578T>C | NCBI36 |
| NG_011618.3:g.264198A>G , LRG_391:g.264198A>G | |
| NG_051363.1:g.53779T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66823A>G (TTN) | ENSP00000343764.6:p.Asn22275Asp | |
| ENST00000342175.11:c.47908A>G (TTN) | ENSP00000340554.6:p.Asn15970Asp | |
| ENST00000359218.10:c.47707A>G (TTN) | ENSP00000352154.5:p.Asn15903Asp | |
| ENST00000342175.10:c.47908A>G (TTN) | ENSP00000340554.6:p.Asn15970Asp | |
| ENST00000342992.10:c.66823A>G (TTN) | ENSP00000343764.6:p.Asn22275Asp | |
| ENST00000359218.9:c.47707A>G (TTN) | ENSP00000352154.5:p.Asn15903Asp | |
| ENST00000460472.6:c.47332A>G (TTN) | ENSP00000434586.1:p.Asn15778Asp | |
| ENST00000589042.5:c.74527A>G (TTN) MANE Select | ENSP00000467141.1:p.Asn24843Asp | |
| ENST00000591111.5:c.69604A>G (TTN) | ENSP00000465570.1:p.Asn23202Asp | |
| ENST00000615779.4:c.69604A>G (TTN) | ENSP00000483597.1:p.Asn23202Asp | |
| NM_001256850.1:c.69604A>G (TTN) | NP_001243779.1:p.Asn23202Asp | |
| NM_001267550.2:c.74527A>G (TTN) MANE Select | NP_001254479.2:p.Asn24843Asp | |
| NM_003319.4:c.47332A>G (TTN) | NP_003310.4:p.Asn15778Asp | |
| NM_133378.4:c.66823A>G (TTN) | NP_596869.4:p.Asn22275Asp | |
| NM_133432.3:c.47707A>G (TTN) | NP_597676.3:p.Asn15903Asp | |
| NM_133437.4:c.47908A>G (TTN) | NP_597681.4:p.Asn15970Asp | |
| NR_038271.1:n.596+156T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-10967T>C (TTN-AS1) | ||
| XM_011511729.1:c.73624A>G (TTN) | XP_011510031.1:p.Asn24542Asp | |
| XM_011511730.1:c.47518A>G (TTN) | XP_011510032.1:p.Asn15840Asp | |
| XM_011511731.1:c.47377A>G (TTN) | XP_011510033.1:p.Asn15793Asp | |
| XM_017004819.1:c.73420A>G (TTN) | XP_016860308.1:p.Asn24474Asp | |
| XM_017004820.1:c.68818A>G (TTN) | XP_016860309.1:p.Asn22940Asp | |
| XM_017004821.1:c.68815A>G (TTN) | XP_016860310.1:p.Asn22939Asp | |
| XM_017004822.1:c.65857A>G (TTN) | XP_016860311.1:p.Asn21953Asp | |
| XM_017004823.1:c.47473A>G (TTN) | XP_016860312.1:p.Asn15825Asp | |
| XM_024453094.1:c.68968A>G (TTN) | XP_024308862.1:p.Asn22990Asp | |
| XM_024453095.1:c.68965A>G (TTN) | XP_024308863.1:p.Asn22989Asp | |
| XM_024453096.1:c.68398A>G (TTN) | XP_024308864.1:p.Asn22800Asp | |
| XM_024453097.1:c.65740A>G (TTN) | XP_024308865.1:p.Asn21914Asp | |
| XM_024453098.1:c.65659A>G (TTN) | XP_024308866.1:p.Asn21887Asp | |
| XM_024453099.1:c.47422A>G (TTN) | XP_024308867.1:p.Asn15808Asp | |
| XM_024453100.1:c.37276A>G (TTN) | XP_024308868.1:p.Asn12426Asp |