Linked Data
ClinVar Variation Id:
283724
ClinVar RCV Id:
RCV000316560
RCV001083010
RCV001128950
RCV001128951
RCV001128952
RCV001128949
RCV000725318
RCV001128948
RCV002379121
dbSNP Id:
rs374878689
ExAC:
2:179400080 T / C
gnomAD v2:
2-179400080-T-C
gnomAD v3:
2-178535353-T-C
gnomAD v4:
2-178535353-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178535353T>C , CM000664.2:g.178535353T>C | GRCh38 |
| NC_000002.11:g.179400080T>C , CM000664.1:g.179400080T>C | GRCh37 |
| NC_000002.10:g.179108326T>C | NCBI36 |
| NG_011618.3:g.300450A>G , LRG_391:g.300450A>G | |
| NG_051363.1:g.17527T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.93558A>G (TTN) | ENSP00000343764.6:p.Gly31186= | |
| ENST00000342175.11:c.74643A>G (TTN) | ENSP00000340554.6:p.Gly24881= | |
| ENST00000359218.10:c.74442A>G (TTN) | ENSP00000352154.5:p.Gly24814= | |
| ENST00000342175.10:c.74643A>G (TTN) | ENSP00000340554.6:p.Gly24881= | |
| ENST00000342992.10:c.93558A>G (TTN) | ENSP00000343764.6:p.Gly31186= | |
| ENST00000359218.9:c.74442A>G (TTN) | ENSP00000352154.5:p.Gly24814= | |
| ENST00000460472.6:c.74067A>G (TTN) | ENSP00000434586.1:p.Gly24689= | |
| ENST00000589042.5:c.101262A>G (TTN) MANE Select | ENSP00000467141.1:p.Gly33754= | |
| ENST00000591111.5:c.96339A>G (TTN) | ENSP00000465570.1:p.Gly32113= | |
| ENST00000615779.4:c.96339A>G (TTN) | ENSP00000483597.1:p.Gly32113= | |
| NM_001256850.1:c.96339A>G (TTN) | NP_001243779.1:p.Gly32113= | |
| NM_001267550.2:c.101262A>G (TTN) MANE Select | NP_001254479.2:p.Gly33754= | |
| NM_003319.4:c.74067A>G (TTN) | NP_003310.4:p.Gly24689= | |
| NM_133378.4:c.93558A>G (TTN) | NP_596869.4:p.Gly31186= | |
| NM_133432.3:c.74442A>G (TTN) | NP_597676.3:p.Gly24814= | |
| NM_133437.4:c.74643A>G (TTN) | NP_597681.4:p.Gly24881= | |
| NR_038271.1:n.446+11717T>C (TTN-AS1) | ||
| NR_038272.1:n.220-379T>C (TTN-AS1) | ||
| XM_011511729.1:c.100359A>G (TTN) | XP_011510031.1:p.Gly33453= | |
| XM_011511730.1:c.74253A>G (TTN) | XP_011510032.1:p.Gly24751= | |
| XM_011511731.1:c.74112A>G (TTN) | XP_011510033.1:p.Gly24704= | |
| XM_017004819.1:c.100155A>G (TTN) | XP_016860308.1:p.Gly33385= | |
| XM_017004820.1:c.95553A>G (TTN) | XP_016860309.1:p.Gly31851= | |
| XM_017004821.1:c.95550A>G (TTN) | XP_016860310.1:p.Gly31850= | |
| XM_017004822.1:c.92592A>G (TTN) | XP_016860311.1:p.Gly30864= | |
| XM_017004823.1:c.74208A>G (TTN) | XP_016860312.1:p.Gly24736= | |
| XM_024453094.1:c.95703A>G (TTN) | XP_024308862.1:p.Gly31901= | |
| XM_024453095.1:c.95700A>G (TTN) | XP_024308863.1:p.Gly31900= | |
| XM_024453096.1:c.95133A>G (TTN) | XP_024308864.1:p.Gly31711= | |
| XM_024453097.1:c.92475A>G (TTN) | XP_024308865.1:p.Gly30825= | |
| XM_024453098.1:c.92394A>G (TTN) | XP_024308866.1:p.Gly30798= | |
| XM_024453099.1:c.74157A>G (TTN) | XP_024308867.1:p.Gly24719= | |
| XM_024453100.1:c.64011A>G (TTN) | XP_024308868.1:p.Gly21337= |