Linked Data
ClinVar Variation Id:
47704
ClinVar RCV Id:
RCV000040973
RCV000245914
RCV000261378
RCV000318880
RCV000331990
RCV000370354
RCV000375781
RCV001511070
dbSNP Id:
rs56207956
ExAC:
2:179395067 C / G
gnomAD v2:
2-179395067-C-G
gnomAD v3:
2-178530340-C-G
gnomAD v4:
2-178530340-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530340C>G , CM000664.2:g.178530340C>G | GRCh38 |
| NC_000002.11:g.179395067C>G , CM000664.1:g.179395067C>G | GRCh37 |
| NC_000002.10:g.179103313C>G | NCBI36 |
| NG_011618.3:g.305463G>C , LRG_391:g.305463G>C | |
| NG_051363.1:g.12514C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98571G>C (TTN) | ENSP00000343764.6:p.Gly32857= | |
| ENST00000342175.11:c.79656G>C (TTN) | ENSP00000340554.6:p.Gly26552= | |
| ENST00000359218.10:c.79455G>C (TTN) | ENSP00000352154.5:p.Gly26485= | |
| ENST00000342175.10:c.79656G>C (TTN) | ENSP00000340554.6:p.Gly26552= | |
| ENST00000342992.10:c.98571G>C (TTN) | ENSP00000343764.6:p.Gly32857= | |
| ENST00000359218.9:c.79455G>C (TTN) | ENSP00000352154.5:p.Gly26485= | |
| ENST00000460472.6:c.79080G>C (TTN) | ENSP00000434586.1:p.Gly26360= | |
| ENST00000589042.5:c.106275G>C (TTN) MANE Select | ENSP00000467141.1:p.Gly35425= | |
| ENST00000591111.5:c.101352G>C (TTN) | ENSP00000465570.1:p.Gly33784= | |
| ENST00000615779.4:c.101352G>C (TTN) | ENSP00000483597.1:p.Gly33784= | |
| NM_001256850.1:c.101352G>C (TTN) | NP_001243779.1:p.Gly33784= | |
| NM_001267550.2:c.106275G>C (TTN) MANE Select | NP_001254479.2:p.Gly35425= | |
| NM_003319.4:c.79080G>C (TTN) | NP_003310.4:p.Gly26360= | |
| NM_133378.4:c.98571G>C (TTN) | NP_596869.4:p.Gly32857= | |
| NM_133432.3:c.79455G>C (TTN) | NP_597676.3:p.Gly26485= | |
| NM_133437.4:c.79656G>C (TTN) | NP_597681.4:p.Gly26552= | |
| NR_038271.1:n.446+6704C>G (TTN-AS1) | ||
| NR_038272.1:n.220-5392C>G (TTN-AS1) | ||
| XM_011511729.1:c.105372G>C (TTN) | XP_011510031.1:p.Gly35124= | |
| XM_011511730.1:c.79266G>C (TTN) | XP_011510032.1:p.Gly26422= | |
| XM_011511731.1:c.79125G>C (TTN) | XP_011510033.1:p.Gly26375= | |
| XM_017004819.1:c.105168G>C (TTN) | XP_016860308.1:p.Gly35056= | |
| XM_017004820.1:c.100566G>C (TTN) | XP_016860309.1:p.Gly33522= | |
| XM_017004821.1:c.100563G>C (TTN) | XP_016860310.1:p.Gly33521= | |
| XM_017004822.1:c.97605G>C (TTN) | XP_016860311.1:p.Gly32535= | |
| XM_017004823.1:c.79221G>C (TTN) | XP_016860312.1:p.Gly26407= | |
| XM_024453094.1:c.100716G>C (TTN) | XP_024308862.1:p.Gly33572= | |
| XM_024453095.1:c.100713G>C (TTN) | XP_024308863.1:p.Gly33571= | |
| XM_024453096.1:c.100146G>C (TTN) | XP_024308864.1:p.Gly33382= | |
| XM_024453097.1:c.97488G>C (TTN) | XP_024308865.1:p.Gly32496= | |
| XM_024453098.1:c.97407G>C (TTN) | XP_024308866.1:p.Gly32469= | |
| XM_024453099.1:c.79170G>C (TTN) | XP_024308867.1:p.Gly26390= | |
| XM_024453100.1:c.69024G>C (TTN) | XP_024308868.1:p.Gly23008= |