Linked Data
ClinVar Variation Id:
202339
dbSNP Id:
rs770742837
ExAC:
2:179397766 C / G
gnomAD v2:
2-179397766-C-G
gnomAD v3:
2-178533039-C-G
gnomAD v4:
2-178533039-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533039C>G , CM000664.2:g.178533039C>G | GRCh38 |
| NC_000002.11:g.179397766C>G , CM000664.1:g.179397766C>G | GRCh37 |
| NC_000002.10:g.179106012C>G | NCBI36 |
| NG_011618.3:g.302764G>C , LRG_391:g.302764G>C | |
| NG_051363.1:g.15213C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95872G>C (TTN) | ENSP00000343764.6:p.Glu31958Gln | |
| ENST00000342175.11:c.76957G>C (TTN) | ENSP00000340554.6:p.Glu25653Gln | |
| ENST00000359218.10:c.76756G>C (TTN) | ENSP00000352154.5:p.Glu25586Gln | |
| ENST00000342175.10:c.76957G>C (TTN) | ENSP00000340554.6:p.Glu25653Gln | |
| ENST00000342992.10:c.95872G>C (TTN) | ENSP00000343764.6:p.Glu31958Gln | |
| ENST00000359218.9:c.76756G>C (TTN) | ENSP00000352154.5:p.Glu25586Gln | |
| ENST00000460472.6:c.76381G>C (TTN) | ENSP00000434586.1:p.Glu25461Gln | |
| ENST00000589042.5:c.103576G>C (TTN) MANE Select | ENSP00000467141.1:p.Glu34526Gln | |
| ENST00000591111.5:c.98653G>C (TTN) | ENSP00000465570.1:p.Glu32885Gln | |
| ENST00000615779.4:c.98653G>C (TTN) | ENSP00000483597.1:p.Glu32885Gln | |
| NM_001256850.1:c.98653G>C (TTN) | NP_001243779.1:p.Glu32885Gln | |
| NM_001267550.2:c.103576G>C (TTN) MANE Select | NP_001254479.2:p.Glu34526Gln | |
| NM_003319.4:c.76381G>C (TTN) | NP_003310.4:p.Glu25461Gln | |
| NM_133378.4:c.95872G>C (TTN) | NP_596869.4:p.Glu31958Gln | |
| NM_133432.3:c.76756G>C (TTN) | NP_597676.3:p.Glu25586Gln | |
| NM_133437.4:c.76957G>C (TTN) | NP_597681.4:p.Glu25653Gln | |
| NR_038271.1:n.446+9403C>G (TTN-AS1) | ||
| NR_038272.1:n.220-2693C>G (TTN-AS1) | ||
| XM_011511729.1:c.102673G>C (TTN) | XP_011510031.1:p.Glu34225Gln | |
| XM_011511730.1:c.76567G>C (TTN) | XP_011510032.1:p.Glu25523Gln | |
| XM_011511731.1:c.76426G>C (TTN) | XP_011510033.1:p.Glu25476Gln | |
| XM_017004819.1:c.102469G>C (TTN) | XP_016860308.1:p.Glu34157Gln | |
| XM_017004820.1:c.97867G>C (TTN) | XP_016860309.1:p.Glu32623Gln | |
| XM_017004821.1:c.97864G>C (TTN) | XP_016860310.1:p.Glu32622Gln | |
| XM_017004822.1:c.94906G>C (TTN) | XP_016860311.1:p.Glu31636Gln | |
| XM_017004823.1:c.76522G>C (TTN) | XP_016860312.1:p.Glu25508Gln | |
| XM_024453094.1:c.98017G>C (TTN) | XP_024308862.1:p.Glu32673Gln | |
| XM_024453095.1:c.98014G>C (TTN) | XP_024308863.1:p.Glu32672Gln | |
| XM_024453096.1:c.97447G>C (TTN) | XP_024308864.1:p.Glu32483Gln | |
| XM_024453097.1:c.94789G>C (TTN) | XP_024308865.1:p.Glu31597Gln | |
| XM_024453098.1:c.94708G>C (TTN) | XP_024308866.1:p.Glu31570Gln | |
| XM_024453099.1:c.76471G>C (TTN) | XP_024308867.1:p.Glu25491Gln | |
| XM_024453100.1:c.66325G>C (TTN) | XP_024308868.1:p.Glu22109Gln |