Linked Data
ClinVar Variation Id:
506669
dbSNP Id:
rs190282707
ExAC:
2:179411970 G / C
gnomAD v2:
2-179411970-G-C
gnomAD v3:
2-178547243-G-C
gnomAD v4:
2-178547243-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178547243G>C , CM000664.2:g.178547243G>C | GRCh38 |
| NC_000002.11:g.179411970G>C , CM000664.1:g.179411970G>C | GRCh37 |
| NC_000002.10:g.179120216G>C | NCBI36 |
| NG_011618.3:g.288560C>G , LRG_391:g.288560C>G | |
| NG_051363.1:g.29417G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86578C>G (TTN) | ENSP00000343764.6:p.Arg28860Gly | |
| ENST00000342175.11:c.67663C>G (TTN) | ENSP00000340554.6:p.Arg22555Gly | |
| ENST00000359218.10:c.67462C>G (TTN) | ENSP00000352154.5:p.Arg22488Gly | |
| ENST00000342175.10:c.67663C>G (TTN) | ENSP00000340554.6:p.Arg22555Gly | |
| ENST00000342992.10:c.86578C>G (TTN) | ENSP00000343764.6:p.Arg28860Gly | |
| ENST00000359218.9:c.67462C>G (TTN) | ENSP00000352154.5:p.Arg22488Gly | |
| ENST00000460472.6:c.67087C>G (TTN) | ENSP00000434586.1:p.Arg22363Gly | |
| ENST00000589042.5:c.94282C>G (TTN) MANE Select | ENSP00000467141.1:p.Arg31428Gly | |
| ENST00000591111.5:c.89359C>G (TTN) | ENSP00000465570.1:p.Arg29787Gly | |
| ENST00000615779.4:c.89359C>G (TTN) | ENSP00000483597.1:p.Arg29787Gly | |
| NM_001256850.1:c.89359C>G (TTN) | NP_001243779.1:p.Arg29787Gly | |
| NM_001267550.2:c.94282C>G (TTN) MANE Select | NP_001254479.2:p.Arg31428Gly | |
| NM_003319.4:c.67087C>G (TTN) | NP_003310.4:p.Arg22363Gly | |
| NM_133378.4:c.86578C>G (TTN) | NP_596869.4:p.Arg28860Gly | |
| NM_133432.3:c.67462C>G (TTN) | NP_597676.3:p.Arg22488Gly | |
| NM_133437.4:c.67663C>G (TTN) | NP_597681.4:p.Arg22555Gly | |
| NR_038271.1:n.446+23607G>C (TTN-AS1) | ||
| NR_038272.1:n.2043+4882G>C (TTN-AS1) | ||
| XM_011511729.1:c.93379C>G (TTN) | XP_011510031.1:p.Arg31127Gly | |
| XM_011511730.1:c.67273C>G (TTN) | XP_011510032.1:p.Arg22425Gly | |
| XM_011511731.1:c.67132C>G (TTN) | XP_011510033.1:p.Arg22378Gly | |
| XM_017004819.1:c.93175C>G (TTN) | XP_016860308.1:p.Arg31059Gly | |
| XM_017004820.1:c.88573C>G (TTN) | XP_016860309.1:p.Arg29525Gly | |
| XM_017004821.1:c.88570C>G (TTN) | XP_016860310.1:p.Arg29524Gly | |
| XM_017004822.1:c.85612C>G (TTN) | XP_016860311.1:p.Arg28538Gly | |
| XM_017004823.1:c.67228C>G (TTN) | XP_016860312.1:p.Arg22410Gly | |
| XM_024453094.1:c.88723C>G (TTN) | XP_024308862.1:p.Arg29575Gly | |
| XM_024453095.1:c.88720C>G (TTN) | XP_024308863.1:p.Arg29574Gly | |
| XM_024453096.1:c.88153C>G (TTN) | XP_024308864.1:p.Arg29385Gly | |
| XM_024453097.1:c.85495C>G (TTN) | XP_024308865.1:p.Arg28499Gly | |
| XM_024453098.1:c.85414C>G (TTN) | XP_024308866.1:p.Arg28472Gly | |
| XM_024453099.1:c.67177C>G (TTN) | XP_024308867.1:p.Arg22393Gly | |
| XM_024453100.1:c.57031C>G (TTN) | XP_024308868.1:p.Arg19011Gly |