Linked Data
ClinVar Variation Id:
467700
dbSNP Id:
rs1307768306
gnomAD v2:
2-179404673-C-G
gnomAD v3:
2-178539946-C-G
gnomAD v4:
2-178539946-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539946C>G , CM000664.2:g.178539946C>G | GRCh38 |
| NC_000002.11:g.179404673C>G , CM000664.1:g.179404673C>G | GRCh37 |
| NC_000002.10:g.179112919C>G | NCBI36 |
| NG_011618.3:g.295857G>C , LRG_391:g.295857G>C | |
| NG_051363.1:g.22120C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90415G>C (TTN) | ENSP00000343764.6:p.Asp30139His | |
| ENST00000342175.11:c.71500G>C (TTN) | ENSP00000340554.6:p.Asp23834His | |
| ENST00000359218.10:c.71299G>C (TTN) | ENSP00000352154.5:p.Asp23767His | |
| ENST00000342175.10:c.71500G>C (TTN) | ENSP00000340554.6:p.Asp23834His | |
| ENST00000342992.10:c.90415G>C (TTN) | ENSP00000343764.6:p.Asp30139His | |
| ENST00000359218.9:c.71299G>C (TTN) | ENSP00000352154.5:p.Asp23767His | |
| ENST00000460472.6:c.70924G>C (TTN) | ENSP00000434586.1:p.Asp23642His | |
| ENST00000589042.5:c.98119G>C (TTN) MANE Select | ENSP00000467141.1:p.Asp32707His | |
| ENST00000591111.5:c.93196G>C (TTN) | ENSP00000465570.1:p.Asp31066His | |
| ENST00000615779.4:c.93196G>C (TTN) | ENSP00000483597.1:p.Asp31066His | |
| NM_001256850.1:c.93196G>C (TTN) | NP_001243779.1:p.Asp31066His | |
| NM_001267550.2:c.98119G>C (TTN) MANE Select | NP_001254479.2:p.Asp32707His | |
| NM_003319.4:c.70924G>C (TTN) | NP_003310.4:p.Asp23642His | |
| NM_133378.4:c.90415G>C (TTN) | NP_596869.4:p.Asp30139His | |
| NM_133432.3:c.71299G>C (TTN) | NP_597676.3:p.Asp23767His | |
| NM_133437.4:c.71500G>C (TTN) | NP_597681.4:p.Asp23834His | |
| NR_038271.1:n.446+16310C>G (TTN-AS1) | ||
| NR_038272.1:n.1840+56C>G (TTN-AS1) | ||
| XM_011511729.1:c.97216G>C (TTN) | XP_011510031.1:p.Asp32406His | |
| XM_011511730.1:c.71110G>C (TTN) | XP_011510032.1:p.Asp23704His | |
| XM_011511731.1:c.70969G>C (TTN) | XP_011510033.1:p.Asp23657His | |
| XM_017004819.1:c.97012G>C (TTN) | XP_016860308.1:p.Asp32338His | |
| XM_017004820.1:c.92410G>C (TTN) | XP_016860309.1:p.Asp30804His | |
| XM_017004821.1:c.92407G>C (TTN) | XP_016860310.1:p.Asp30803His | |
| XM_017004822.1:c.89449G>C (TTN) | XP_016860311.1:p.Asp29817His | |
| XM_017004823.1:c.71065G>C (TTN) | XP_016860312.1:p.Asp23689His | |
| XM_024453094.1:c.92560G>C (TTN) | XP_024308862.1:p.Asp30854His | |
| XM_024453095.1:c.92557G>C (TTN) | XP_024308863.1:p.Asp30853His | |
| XM_024453096.1:c.91990G>C (TTN) | XP_024308864.1:p.Asp30664His | |
| XM_024453097.1:c.89332G>C (TTN) | XP_024308865.1:p.Asp29778His | |
| XM_024453098.1:c.89251G>C (TTN) | XP_024308866.1:p.Asp29751His | |
| XM_024453099.1:c.71014G>C (TTN) | XP_024308867.1:p.Asp23672His | |
| XM_024453100.1:c.60868G>C (TTN) | XP_024308868.1:p.Asp20290His |