Linked Data
ClinVar Variation Id:
238790
dbSNP Id:
rs201793958
ExAC:
2:179479226 G / A
gnomAD v2:
2-179479226-G-A
gnomAD v3:
2-178614499-G-A
gnomAD v4:
2-178614499-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614499G>A , CM000664.2:g.178614499G>A | GRCh38 |
| NC_000002.11:g.179479226G>A , CM000664.1:g.179479226G>A | GRCh37 |
| NC_000002.10:g.179187471G>A | NCBI36 |
| NG_011618.3:g.221304C>T , LRG_391:g.221304C>T | |
| NG_051363.1:g.96673G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41311C>T (TTN) | ENSP00000343764.6:p.Arg13771Trp | |
| ENST00000342175.11:c.22396C>T (TTN) | ENSP00000340554.6:p.Arg7466Trp | |
| ENST00000359218.10:c.22195C>T (TTN) | ENSP00000352154.5:p.Arg7399Trp | |
| ENST00000342175.10:c.22396C>T (TTN) | ENSP00000340554.6:p.Arg7466Trp | |
| ENST00000342992.10:c.41311C>T (TTN) | ENSP00000343764.6:p.Arg13771Trp | |
| ENST00000359218.9:c.22195C>T (TTN) | ENSP00000352154.5:p.Arg7399Trp | |
| ENST00000460472.6:c.21820C>T (TTN) | ENSP00000434586.1:p.Arg7274Trp | |
| ENST00000589042.5:c.49015C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg16339Trp | |
| ENST00000591111.5:c.44092C>T (TTN) | ENSP00000465570.1:p.Arg14698Trp | |
| ENST00000615779.4:c.44092C>T (TTN) | ENSP00000483597.1:p.Arg14698Trp | |
| NM_001256850.1:c.44092C>T (TTN) | NP_001243779.1:p.Arg14698Trp | |
| NM_001267550.2:c.49015C>T (TTN) MANE Select | NP_001254479.2:p.Arg16339Trp | |
| NM_003319.4:c.21820C>T (TTN) | NP_003310.4:p.Arg7274Trp | |
| NM_133378.4:c.41311C>T (TTN) | NP_596869.4:p.Arg13771Trp | |
| NM_133432.3:c.22195C>T (TTN) | NP_597676.3:p.Arg7399Trp | |
| NM_133437.4:c.22396C>T (TTN) | NP_597681.4:p.Arg7466Trp | |
| NR_038271.1:n.1247G>A (TTN-AS1) | ||
| XM_011511729.1:c.48112C>T (TTN) | XP_011510031.1:p.Arg16038Trp | |
| XM_011511730.1:c.22006C>T (TTN) | XP_011510032.1:p.Arg7336Trp | |
| XM_011511731.1:c.21865C>T (TTN) | XP_011510033.1:p.Arg7289Trp | |
| XM_017004819.1:c.47908C>T (TTN) | XP_016860308.1:p.Arg15970Trp | |
| XM_017004820.1:c.43306C>T (TTN) | XP_016860309.1:p.Arg14436Trp | |
| XM_017004821.1:c.43303C>T (TTN) | XP_016860310.1:p.Arg14435Trp | |
| XM_017004822.1:c.40345C>T (TTN) | XP_016860311.1:p.Arg13449Trp | |
| XM_017004823.1:c.21961C>T (TTN) | XP_016860312.1:p.Arg7321Trp | |
| XM_024453094.1:c.43456C>T (TTN) | XP_024308862.1:p.Arg14486Trp | |
| XM_024453095.1:c.43453C>T (TTN) | XP_024308863.1:p.Arg14485Trp | |
| XM_024453096.1:c.42886C>T (TTN) | XP_024308864.1:p.Arg14296Trp | |
| XM_024453097.1:c.40228C>T (TTN) | XP_024308865.1:p.Arg13410Trp | |
| XM_024453098.1:c.40147C>T (TTN) | XP_024308866.1:p.Arg13383Trp | |
| XM_024453099.1:c.21910C>T (TTN) | XP_024308867.1:p.Arg7304Trp | |
| XM_024453100.1:c.11764C>T (TTN) | XP_024308868.1:p.Arg3922Trp |