Linked Data
ClinVar Variation Id:
165799
ClinVar RCV Id:
RCV000152203
RCV000332173
RCV000260100
RCV000370450
RCV000274661
RCV000366979
RCV000643482
RCV000768909
RCV001704096
RCV002345480
RCV004544366
dbSNP Id:
rs199670463
ExAC:
2:179428921 C / T
gnomAD v2:
2-179428921-C-T
gnomAD v3:
2-178564194-C-T
gnomAD v4:
2-178564194-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178564194C>T , CM000664.2:g.178564194C>T | GRCh38 |
| NC_000002.11:g.179428921C>T , CM000664.1:g.179428921C>T | GRCh37 |
| NC_000002.10:g.179137167C>T | NCBI36 |
| NG_011618.3:g.271609G>A , LRG_391:g.271609G>A | |
| NG_051363.1:g.46368C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.74234G>A (TTN) | ENSP00000343764.6:p.Gly24745Glu | |
| ENST00000342175.11:c.55319G>A (TTN) | ENSP00000340554.6:p.Gly18440Glu | |
| ENST00000359218.10:c.55118G>A (TTN) | ENSP00000352154.5:p.Gly18373Glu | |
| ENST00000342175.10:c.55319G>A (TTN) | ENSP00000340554.6:p.Gly18440Glu | |
| ENST00000342992.10:c.74234G>A (TTN) | ENSP00000343764.6:p.Gly24745Glu | |
| ENST00000359218.9:c.55118G>A (TTN) | ENSP00000352154.5:p.Gly18373Glu | |
| ENST00000460472.6:c.54743G>A (TTN) | ENSP00000434586.1:p.Gly18248Glu | |
| ENST00000589042.5:c.81938G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly27313Glu | |
| ENST00000591111.5:c.77015G>A (TTN) | ENSP00000465570.1:p.Gly25672Glu | |
| ENST00000615779.4:c.77015G>A (TTN) | ENSP00000483597.1:p.Gly25672Glu | |
| NM_001256850.1:c.77015G>A (TTN) | NP_001243779.1:p.Gly25672Glu | |
| NM_001267550.2:c.81938G>A (TTN) MANE Select | NP_001254479.2:p.Gly27313Glu | |
| NM_003319.4:c.54743G>A (TTN) | NP_003310.4:p.Gly18248Glu | |
| NM_133378.4:c.74234G>A (TTN) | NP_596869.4:p.Gly24745Glu | |
| NM_133432.3:c.55118G>A (TTN) | NP_597676.3:p.Gly18373Glu | |
| NM_133437.4:c.55319G>A (TTN) | NP_597681.4:p.Gly18440Glu | |
| NR_038271.1:n.447-7106C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-18378C>T (TTN-AS1) | ||
| XM_011511729.1:c.81035G>A (TTN) | XP_011510031.1:p.Gly27012Glu | |
| XM_011511730.1:c.54929G>A (TTN) | XP_011510032.1:p.Gly18310Glu | |
| XM_011511731.1:c.54788G>A (TTN) | XP_011510033.1:p.Gly18263Glu | |
| XM_017004819.1:c.80831G>A (TTN) | XP_016860308.1:p.Gly26944Glu | |
| XM_017004820.1:c.76229G>A (TTN) | XP_016860309.1:p.Gly25410Glu | |
| XM_017004821.1:c.76226G>A (TTN) | XP_016860310.1:p.Gly25409Glu | |
| XM_017004822.1:c.73268G>A (TTN) | XP_016860311.1:p.Gly24423Glu | |
| XM_017004823.1:c.54884G>A (TTN) | XP_016860312.1:p.Gly18295Glu | |
| XM_024453094.1:c.76379G>A (TTN) | XP_024308862.1:p.Gly25460Glu | |
| XM_024453095.1:c.76376G>A (TTN) | XP_024308863.1:p.Gly25459Glu | |
| XM_024453096.1:c.75809G>A (TTN) | XP_024308864.1:p.Gly25270Glu | |
| XM_024453097.1:c.73151G>A (TTN) | XP_024308865.1:p.Gly24384Glu | |
| XM_024453098.1:c.73070G>A (TTN) | XP_024308866.1:p.Gly24357Glu | |
| XM_024453099.1:c.54833G>A (TTN) | XP_024308867.1:p.Gly18278Glu | |
| XM_024453100.1:c.44687G>A (TTN) | XP_024308868.1:p.Gly14896Glu |