Linked Data
ClinVar Variation Id:
2933743
ClinVar RCV Id:
RCV003793301
dbSNP Id:
rs1688680351
gnomAD v3:
2-178530596-C-G
gnomAD v4:
2-178530596-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530596C>G , CM000664.2:g.178530596C>G | GRCh38 |
| NC_000002.11:g.179395323C>G , CM000664.1:g.179395323C>G | GRCh37 |
| NC_000002.10:g.179103569C>G | NCBI36 |
| NG_011618.3:g.305207G>C , LRG_391:g.305207G>C | |
| NG_051363.1:g.12770C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98315G>C (TTN) | ENSP00000343764.6:p.Gly32772Ala | |
| ENST00000342175.11:c.79400G>C (TTN) | ENSP00000340554.6:p.Gly26467Ala | |
| ENST00000359218.10:c.79199G>C (TTN) | ENSP00000352154.5:p.Gly26400Ala | |
| ENST00000342175.10:c.79400G>C (TTN) | ENSP00000340554.6:p.Gly26467Ala | |
| ENST00000342992.10:c.98315G>C (TTN) | ENSP00000343764.6:p.Gly32772Ala | |
| ENST00000359218.9:c.79199G>C (TTN) | ENSP00000352154.5:p.Gly26400Ala | |
| ENST00000460472.6:c.78824G>C (TTN) | ENSP00000434586.1:p.Gly26275Ala | |
| ENST00000589042.5:c.106019G>C (TTN) MANE Select | ENSP00000467141.1:p.Gly35340Ala | |
| ENST00000591111.5:c.101096G>C (TTN) | ENSP00000465570.1:p.Gly33699Ala | |
| ENST00000615779.4:c.101096G>C (TTN) | ENSP00000483597.1:p.Gly33699Ala | |
| NM_001256850.1:c.101096G>C (TTN) | NP_001243779.1:p.Gly33699Ala | |
| NM_001267550.2:c.106019G>C (TTN) MANE Select | NP_001254479.2:p.Gly35340Ala | |
| NM_003319.4:c.78824G>C (TTN) | NP_003310.4:p.Gly26275Ala | |
| NM_133378.4:c.98315G>C (TTN) | NP_596869.4:p.Gly32772Ala | |
| NM_133432.3:c.79199G>C (TTN) | NP_597676.3:p.Gly26400Ala | |
| NM_133437.4:c.79400G>C (TTN) | NP_597681.4:p.Gly26467Ala | |
| NR_038271.1:n.446+6960C>G (TTN-AS1) | ||
| NR_038272.1:n.220-5136C>G (TTN-AS1) | ||
| XM_011511729.1:c.105116G>C (TTN) | XP_011510031.1:p.Gly35039Ala | |
| XM_011511730.1:c.79010G>C (TTN) | XP_011510032.1:p.Gly26337Ala | |
| XM_011511731.1:c.78869G>C (TTN) | XP_011510033.1:p.Gly26290Ala | |
| XM_017004819.1:c.104912G>C (TTN) | XP_016860308.1:p.Gly34971Ala | |
| XM_017004820.1:c.100310G>C (TTN) | XP_016860309.1:p.Gly33437Ala | |
| XM_017004821.1:c.100307G>C (TTN) | XP_016860310.1:p.Gly33436Ala | |
| XM_017004822.1:c.97349G>C (TTN) | XP_016860311.1:p.Gly32450Ala | |
| XM_017004823.1:c.78965G>C (TTN) | XP_016860312.1:p.Gly26322Ala | |
| XM_024453094.1:c.100460G>C (TTN) | XP_024308862.1:p.Gly33487Ala | |
| XM_024453095.1:c.100457G>C (TTN) | XP_024308863.1:p.Gly33486Ala | |
| XM_024453096.1:c.99890G>C (TTN) | XP_024308864.1:p.Gly33297Ala | |
| XM_024453097.1:c.97232G>C (TTN) | XP_024308865.1:p.Gly32411Ala | |
| XM_024453098.1:c.97151G>C (TTN) | XP_024308866.1:p.Gly32384Ala | |
| XM_024453099.1:c.78914G>C (TTN) | XP_024308867.1:p.Gly26305Ala | |
| XM_024453100.1:c.68768G>C (TTN) | XP_024308868.1:p.Gly22923Ala |