Linked Data
ClinVar Variation Id:
203056
ClinVar RCV Id:
RCV000283303
RCV000340707
RCV000392156
RCV000537271
RCV000617715
RCV000305798
RCV000353303
RCV000764297
RCV000713947
RCV001270047
RCV002282014
RCV003486756
dbSNP Id:
rs368321767
ExAC:
2:179401027 C / G
gnomAD v2:
2-179401027-C-G
gnomAD v3:
2-178536300-C-G
gnomAD v4:
2-178536300-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178536300C>G , CM000664.2:g.178536300C>G | GRCh38 |
| NC_000002.11:g.179401027C>G , CM000664.1:g.179401027C>G | GRCh37 |
| NC_000002.10:g.179109273C>G | NCBI36 |
| NG_011618.3:g.299503G>C , LRG_391:g.299503G>C | |
| NG_051363.1:g.18474C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92743G>C (TTN) | ENSP00000343764.6:p.Glu30915Gln | |
| ENST00000342175.11:c.73828G>C (TTN) | ENSP00000340554.6:p.Glu24610Gln | |
| ENST00000359218.10:c.73627G>C (TTN) | ENSP00000352154.5:p.Glu24543Gln | |
| ENST00000342175.10:c.73828G>C (TTN) | ENSP00000340554.6:p.Glu24610Gln | |
| ENST00000342992.10:c.92743G>C (TTN) | ENSP00000343764.6:p.Glu30915Gln | |
| ENST00000359218.9:c.73627G>C (TTN) | ENSP00000352154.5:p.Glu24543Gln | |
| ENST00000460472.6:c.73252G>C (TTN) | ENSP00000434586.1:p.Glu24418Gln | |
| ENST00000589042.5:c.100447G>C (TTN) MANE Select | ENSP00000467141.1:p.Glu33483Gln | |
| ENST00000591111.5:c.95524G>C (TTN) | ENSP00000465570.1:p.Glu31842Gln | |
| ENST00000615779.4:c.95524G>C (TTN) | ENSP00000483597.1:p.Glu31842Gln | |
| NM_001256850.1:c.95524G>C (TTN) | NP_001243779.1:p.Glu31842Gln | |
| NM_001267550.2:c.100447G>C (TTN) MANE Select | NP_001254479.2:p.Glu33483Gln | |
| NM_003319.4:c.73252G>C (TTN) | NP_003310.4:p.Glu24418Gln | |
| NM_133378.4:c.92743G>C (TTN) | NP_596869.4:p.Glu30915Gln | |
| NM_133432.3:c.73627G>C (TTN) | NP_597676.3:p.Glu24543Gln | |
| NM_133437.4:c.73828G>C (TTN) | NP_597681.4:p.Glu24610Gln | |
| NR_038271.1:n.446+12664C>G (TTN-AS1) | ||
| NR_038272.1:n.316+472C>G (TTN-AS1) | ||
| XM_011511729.1:c.99544G>C (TTN) | XP_011510031.1:p.Glu33182Gln | |
| XM_011511730.1:c.73438G>C (TTN) | XP_011510032.1:p.Glu24480Gln | |
| XM_011511731.1:c.73297G>C (TTN) | XP_011510033.1:p.Glu24433Gln | |
| XM_017004819.1:c.99340G>C (TTN) | XP_016860308.1:p.Glu33114Gln | |
| XM_017004820.1:c.94738G>C (TTN) | XP_016860309.1:p.Glu31580Gln | |
| XM_017004821.1:c.94735G>C (TTN) | XP_016860310.1:p.Glu31579Gln | |
| XM_017004822.1:c.91777G>C (TTN) | XP_016860311.1:p.Glu30593Gln | |
| XM_017004823.1:c.73393G>C (TTN) | XP_016860312.1:p.Glu24465Gln | |
| XM_024453094.1:c.94888G>C (TTN) | XP_024308862.1:p.Glu31630Gln | |
| XM_024453095.1:c.94885G>C (TTN) | XP_024308863.1:p.Glu31629Gln | |
| XM_024453096.1:c.94318G>C (TTN) | XP_024308864.1:p.Glu31440Gln | |
| XM_024453097.1:c.91660G>C (TTN) | XP_024308865.1:p.Glu30554Gln | |
| XM_024453098.1:c.91579G>C (TTN) | XP_024308866.1:p.Glu30527Gln | |
| XM_024453099.1:c.73342G>C (TTN) | XP_024308867.1:p.Glu24448Gln | |
| XM_024453100.1:c.63196G>C (TTN) | XP_024308868.1:p.Glu21066Gln |