Linked Data
ClinVar Variation Id:
47517
ClinVar RCV Id:
RCV000040786
RCV000249101
RCV000768864
RCV001082069
RCV000714118
RCV001839724
RCV001839725
RCV001839726
RCV001839727
RCV004541192
dbSNP Id:
rs72648245
ExAC:
2:179414512 T / C
gnomAD v2:
2-179414512-T-C
gnomAD v3:
2-178549785-T-C
gnomAD v4:
2-178549785-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549785T>C , CM000664.2:g.178549785T>C | GRCh38 |
| NC_000002.11:g.179414512T>C , CM000664.1:g.179414512T>C | GRCh37 |
| NC_000002.10:g.179122758T>C | NCBI36 |
| NG_011618.3:g.286018A>G , LRG_391:g.286018A>G | |
| NG_051363.1:g.31959T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84233A>G (TTN) | ENSP00000343764.6:p.Asn28078Ser | |
| ENST00000342175.11:c.65318A>G (TTN) | ENSP00000340554.6:p.Asn21773Ser | |
| ENST00000359218.10:c.65117A>G (TTN) | ENSP00000352154.5:p.Asn21706Ser | |
| ENST00000342175.10:c.65318A>G (TTN) | ENSP00000340554.6:p.Asn21773Ser | |
| ENST00000342992.10:c.84233A>G (TTN) | ENSP00000343764.6:p.Asn28078Ser | |
| ENST00000359218.9:c.65117A>G (TTN) | ENSP00000352154.5:p.Asn21706Ser | |
| ENST00000460472.6:c.64742A>G (TTN) | ENSP00000434586.1:p.Asn21581Ser | |
| ENST00000589042.5:c.91937A>G (TTN) MANE Select | ENSP00000467141.1:p.Asn30646Ser | |
| ENST00000591111.5:c.87014A>G (TTN) | ENSP00000465570.1:p.Asn29005Ser | |
| ENST00000615779.4:c.87014A>G (TTN) | ENSP00000483597.1:p.Asn29005Ser | |
| NM_001256850.1:c.87014A>G (TTN) | NP_001243779.1:p.Asn29005Ser | |
| NM_001267550.2:c.91937A>G (TTN) MANE Select | NP_001254479.2:p.Asn30646Ser | |
| NM_003319.4:c.64742A>G (TTN) | NP_003310.4:p.Asn21581Ser | |
| NM_133378.4:c.84233A>G (TTN) | NP_596869.4:p.Asn28078Ser | |
| NM_133432.3:c.65117A>G (TTN) | NP_597676.3:p.Asn21706Ser | |
| NM_133437.4:c.65318A>G (TTN) | NP_597681.4:p.Asn21773Ser | |
| NR_038271.1:n.447-21515T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+7424T>C (TTN-AS1) | ||
| XM_011511729.1:c.91034A>G (TTN) | XP_011510031.1:p.Asn30345Ser | |
| XM_011511730.1:c.64928A>G (TTN) | XP_011510032.1:p.Asn21643Ser | |
| XM_011511731.1:c.64787A>G (TTN) | XP_011510033.1:p.Asn21596Ser | |
| XM_017004819.1:c.90830A>G (TTN) | XP_016860308.1:p.Asn30277Ser | |
| XM_017004820.1:c.86228A>G (TTN) | XP_016860309.1:p.Asn28743Ser | |
| XM_017004821.1:c.86225A>G (TTN) | XP_016860310.1:p.Asn28742Ser | |
| XM_017004822.1:c.83267A>G (TTN) | XP_016860311.1:p.Asn27756Ser | |
| XM_017004823.1:c.64883A>G (TTN) | XP_016860312.1:p.Asn21628Ser | |
| XM_024453094.1:c.86378A>G (TTN) | XP_024308862.1:p.Asn28793Ser | |
| XM_024453095.1:c.86375A>G (TTN) | XP_024308863.1:p.Asn28792Ser | |
| XM_024453096.1:c.85808A>G (TTN) | XP_024308864.1:p.Asn28603Ser | |
| XM_024453097.1:c.83150A>G (TTN) | XP_024308865.1:p.Asn27717Ser | |
| XM_024453098.1:c.83069A>G (TTN) | XP_024308866.1:p.Asn27690Ser | |
| XM_024453099.1:c.64832A>G (TTN) | XP_024308867.1:p.Asn21611Ser | |
| XM_024453100.1:c.54686A>G (TTN) | XP_024308868.1:p.Asn18229Ser |