Linked Data
ClinVar Variation Id:
238694
dbSNP Id:
rs79666048
ExAC:
2:179397327 G / A
gnomAD v2:
2-179397327-G-A
gnomAD v3:
2-178532600-G-A
gnomAD v4:
2-178532600-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532600G>A , CM000664.2:g.178532600G>A | GRCh38 |
| NC_000002.11:g.179397327G>A , CM000664.1:g.179397327G>A | GRCh37 |
| NC_000002.10:g.179105573G>A | NCBI36 |
| NG_011618.3:g.303203C>T , LRG_391:g.303203C>T | |
| NG_051363.1:g.14774G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96311C>T (TTN) | ENSP00000343764.6:p.Ala32104Val | |
| ENST00000342175.11:c.77396C>T (TTN) | ENSP00000340554.6:p.Ala25799Val | |
| ENST00000359218.10:c.77195C>T (TTN) | ENSP00000352154.5:p.Ala25732Val | |
| ENST00000342175.10:c.77396C>T (TTN) | ENSP00000340554.6:p.Ala25799Val | |
| ENST00000342992.10:c.96311C>T (TTN) | ENSP00000343764.6:p.Ala32104Val | |
| ENST00000359218.9:c.77195C>T (TTN) | ENSP00000352154.5:p.Ala25732Val | |
| ENST00000460472.6:c.76820C>T (TTN) | ENSP00000434586.1:p.Ala25607Val | |
| ENST00000589042.5:c.104015C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala34672Val | |
| ENST00000591111.5:c.99092C>T (TTN) | ENSP00000465570.1:p.Ala33031Val | |
| ENST00000615779.4:c.99092C>T (TTN) | ENSP00000483597.1:p.Ala33031Val | |
| NM_001256850.1:c.99092C>T (TTN) | NP_001243779.1:p.Ala33031Val | |
| NM_001267550.2:c.104015C>T (TTN) MANE Select | NP_001254479.2:p.Ala34672Val | |
| NM_003319.4:c.76820C>T (TTN) | NP_003310.4:p.Ala25607Val | |
| NM_133378.4:c.96311C>T (TTN) | NP_596869.4:p.Ala32104Val | |
| NM_133432.3:c.77195C>T (TTN) | NP_597676.3:p.Ala25732Val | |
| NM_133437.4:c.77396C>T (TTN) | NP_597681.4:p.Ala25799Val | |
| NR_038271.1:n.446+8964G>A (TTN-AS1) | ||
| NR_038272.1:n.220-3132G>A (TTN-AS1) | ||
| XM_011511729.1:c.103112C>T (TTN) | XP_011510031.1:p.Ala34371Val | |
| XM_011511730.1:c.77006C>T (TTN) | XP_011510032.1:p.Ala25669Val | |
| XM_011511731.1:c.76865C>T (TTN) | XP_011510033.1:p.Ala25622Val | |
| XM_017004819.1:c.102908C>T (TTN) | XP_016860308.1:p.Ala34303Val | |
| XM_017004820.1:c.98306C>T (TTN) | XP_016860309.1:p.Ala32769Val | |
| XM_017004821.1:c.98303C>T (TTN) | XP_016860310.1:p.Ala32768Val | |
| XM_017004822.1:c.95345C>T (TTN) | XP_016860311.1:p.Ala31782Val | |
| XM_017004823.1:c.76961C>T (TTN) | XP_016860312.1:p.Ala25654Val | |
| XM_024453094.1:c.98456C>T (TTN) | XP_024308862.1:p.Ala32819Val | |
| XM_024453095.1:c.98453C>T (TTN) | XP_024308863.1:p.Ala32818Val | |
| XM_024453096.1:c.97886C>T (TTN) | XP_024308864.1:p.Ala32629Val | |
| XM_024453097.1:c.95228C>T (TTN) | XP_024308865.1:p.Ala31743Val | |
| XM_024453098.1:c.95147C>T (TTN) | XP_024308866.1:p.Ala31716Val | |
| XM_024453099.1:c.76910C>T (TTN) | XP_024308867.1:p.Ala25637Val | |
| XM_024453100.1:c.66764C>T (TTN) | XP_024308868.1:p.Ala22255Val |