Linked Data
ClinVar Variation Id:
497194
dbSNP Id:
rs371996901
ExAC:
2:179441311 T / C
gnomAD v2:
2-179441311-T-C
gnomAD v3:
2-178576584-T-C
gnomAD v4:
2-178576584-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178576584T>C , CM000664.2:g.178576584T>C | GRCh38 |
| NC_000002.11:g.179441311T>C , CM000664.1:g.179441311T>C | GRCh37 |
| NC_000002.10:g.179149557T>C | NCBI36 |
| NG_011618.3:g.259219A>G , LRG_391:g.259219A>G | |
| NG_051363.1:g.58758T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.61956A>G (TTN) | ENSP00000343764.6:p.Ala20652= | |
| ENST00000342175.11:c.43041A>G (TTN) | ENSP00000340554.6:p.Ala14347= | |
| ENST00000359218.10:c.42840A>G (TTN) | ENSP00000352154.5:p.Ala14280= | |
| ENST00000342175.10:c.43041A>G (TTN) | ENSP00000340554.6:p.Ala14347= | |
| ENST00000342992.10:c.61956A>G (TTN) | ENSP00000343764.6:p.Ala20652= | |
| ENST00000359218.9:c.42840A>G (TTN) | ENSP00000352154.5:p.Ala14280= | |
| ENST00000460472.6:c.42465A>G (TTN) | ENSP00000434586.1:p.Ala14155= | |
| ENST00000589042.5:c.69660A>G (TTN) MANE Select | ENSP00000467141.1:p.Ala23220= | |
| ENST00000591111.5:c.64737A>G (TTN) | ENSP00000465570.1:p.Ala21579= | |
| ENST00000615779.4:c.64737A>G (TTN) | ENSP00000483597.1:p.Ala21579= | |
| NM_001256850.1:c.64737A>G (TTN) | NP_001243779.1:p.Ala21579= | |
| NM_001267550.2:c.69660A>G (TTN) MANE Select | NP_001254479.2:p.Ala23220= | |
| NM_003319.4:c.42465A>G (TTN) | NP_003310.4:p.Ala14155= | |
| NM_133378.4:c.61956A>G (TTN) | NP_596869.4:p.Ala20652= | |
| NM_133432.3:c.42840A>G (TTN) | NP_597676.3:p.Ala14280= | |
| NM_133437.4:c.43041A>G (TTN) | NP_597681.4:p.Ala14347= | |
| NR_038271.1:n.596+5135T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-5988T>C (TTN-AS1) | ||
| XM_011511729.1:c.68757A>G (TTN) | XP_011510031.1:p.Ala22919= | |
| XM_011511730.1:c.42651A>G (TTN) | XP_011510032.1:p.Ala14217= | |
| XM_011511731.1:c.42510A>G (TTN) | XP_011510033.1:p.Ala14170= | |
| XM_017004819.1:c.68553A>G (TTN) | XP_016860308.1:p.Ala22851= | |
| XM_017004820.1:c.63951A>G (TTN) | XP_016860309.1:p.Ala21317= | |
| XM_017004821.1:c.63948A>G (TTN) | XP_016860310.1:p.Ala21316= | |
| XM_017004822.1:c.60990A>G (TTN) | XP_016860311.1:p.Ala20330= | |
| XM_017004823.1:c.42606A>G (TTN) | XP_016860312.1:p.Ala14202= | |
| XM_024453094.1:c.64101A>G (TTN) | XP_024308862.1:p.Ala21367= | |
| XM_024453095.1:c.64098A>G (TTN) | XP_024308863.1:p.Ala21366= | |
| XM_024453096.1:c.63531A>G (TTN) | XP_024308864.1:p.Ala21177= | |
| XM_024453097.1:c.60873A>G (TTN) | XP_024308865.1:p.Ala20291= | |
| XM_024453098.1:c.60792A>G (TTN) | XP_024308866.1:p.Ala20264= | |
| XM_024453099.1:c.42555A>G (TTN) | XP_024308867.1:p.Ala14185= | |
| XM_024453100.1:c.32409A>G (TTN) | XP_024308868.1:p.Ala10803= |