Linked Data
ClinVar Variation Id:
47126
ClinVar RCV Id:
RCV000040396
RCV000118768
RCV000253459
RCV000467434
RCV000852835
RCV001135095
RCV001135096
RCV001135098
RCV001135097
RCV001135099
RCV001798164
dbSNP Id:
rs397517630
ExAC:
2:179460495 G / C
gnomAD v2:
2-179460495-G-C
gnomAD v3:
2-178595768-G-C
gnomAD v4:
2-178595768-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178595768G>C , CM000664.2:g.178595768G>C | GRCh38 |
| NC_000002.11:g.179460495G>C , CM000664.1:g.179460495G>C | GRCh37 |
| NC_000002.10:g.179168741G>C | NCBI36 |
| NG_011618.3:g.240035C>G , LRG_391:g.240035C>G | |
| NG_051363.1:g.77942G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49882C>G (TTN) | ENSP00000343764.6:p.Leu16628Val | |
| ENST00000342175.11:c.30967C>G (TTN) | ENSP00000340554.6:p.Leu10323Val | |
| ENST00000359218.10:c.30766C>G (TTN) | ENSP00000352154.5:p.Leu10256Val | |
| ENST00000342175.10:c.30967C>G (TTN) | ENSP00000340554.6:p.Leu10323Val | |
| ENST00000342992.10:c.49882C>G (TTN) | ENSP00000343764.6:p.Leu16628Val | |
| ENST00000359218.9:c.30766C>G (TTN) | ENSP00000352154.5:p.Leu10256Val | |
| ENST00000460472.6:c.30391C>G (TTN) | ENSP00000434586.1:p.Leu10131Val | |
| ENST00000589042.5:c.57586C>G (TTN) MANE Select | ENSP00000467141.1:p.Leu19196Val | |
| ENST00000591111.5:c.52663C>G (TTN) | ENSP00000465570.1:p.Leu17555Val | |
| ENST00000615779.4:c.52663C>G (TTN) | ENSP00000483597.1:p.Leu17555Val | |
| NM_001256850.1:c.52663C>G (TTN) | NP_001243779.1:p.Leu17555Val | |
| NM_001267550.2:c.57586C>G (TTN) MANE Select | NP_001254479.2:p.Leu19196Val | |
| NM_003319.4:c.30391C>G (TTN) | NP_003310.4:p.Leu10131Val | |
| NM_133378.4:c.49882C>G (TTN) | NP_596869.4:p.Leu16628Val | |
| NM_133432.3:c.30766C>G (TTN) | NP_597676.3:p.Leu10256Val | |
| NM_133437.4:c.30967C>G (TTN) | NP_597681.4:p.Leu10323Val | |
| NR_038271.1:n.597-1828G>C (TTN-AS1) | ||
| NR_038272.1:n.3365-1828G>C (TTN-AS1) | ||
| XM_011511729.1:c.56683C>G (TTN) | XP_011510031.1:p.Leu18895Val | |
| XM_011511730.1:c.30577C>G (TTN) | XP_011510032.1:p.Leu10193Val | |
| XM_011511731.1:c.30436C>G (TTN) | XP_011510033.1:p.Leu10146Val | |
| XM_017004819.1:c.56479C>G (TTN) | XP_016860308.1:p.Leu18827Val | |
| XM_017004820.1:c.51877C>G (TTN) | XP_016860309.1:p.Leu17293Val | |
| XM_017004821.1:c.51874C>G (TTN) | XP_016860310.1:p.Leu17292Val | |
| XM_017004822.1:c.48916C>G (TTN) | XP_016860311.1:p.Leu16306Val | |
| XM_017004823.1:c.30532C>G (TTN) | XP_016860312.1:p.Leu10178Val | |
| XM_024453094.1:c.52027C>G (TTN) | XP_024308862.1:p.Leu17343Val | |
| XM_024453095.1:c.52024C>G (TTN) | XP_024308863.1:p.Leu17342Val | |
| XM_024453096.1:c.51457C>G (TTN) | XP_024308864.1:p.Leu17153Val | |
| XM_024453097.1:c.48799C>G (TTN) | XP_024308865.1:p.Leu16267Val | |
| XM_024453098.1:c.48718C>G (TTN) | XP_024308866.1:p.Leu16240Val | |
| XM_024453099.1:c.30481C>G (TTN) | XP_024308867.1:p.Leu10161Val | |
| XM_024453100.1:c.20335C>G (TTN) | XP_024308868.1:p.Leu6779Val |