Linked Data
ClinVar Variation Id:
502402
dbSNP Id:
rs1194442496
gnomAD v3:
2-178575966-G-C
gnomAD v4:
2-178575966-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575966G>C , CM000664.2:g.178575966G>C | GRCh38 |
| NC_000002.11:g.179440693G>C , CM000664.1:g.179440693G>C | GRCh37 |
| NC_000002.10:g.179148939G>C | NCBI36 |
| NG_011618.3:g.259837C>G , LRG_391:g.259837C>G | |
| NG_051363.1:g.58140G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62462C>G (TTN) | ENSP00000343764.6:p.Ala20821Gly | |
| ENST00000342175.11:c.43547C>G (TTN) | ENSP00000340554.6:p.Ala14516Gly | |
| ENST00000359218.10:c.43346C>G (TTN) | ENSP00000352154.5:p.Ala14449Gly | |
| ENST00000342175.10:c.43547C>G (TTN) | ENSP00000340554.6:p.Ala14516Gly | |
| ENST00000342992.10:c.62462C>G (TTN) | ENSP00000343764.6:p.Ala20821Gly | |
| ENST00000359218.9:c.43346C>G (TTN) | ENSP00000352154.5:p.Ala14449Gly | |
| ENST00000460472.6:c.42971C>G (TTN) | ENSP00000434586.1:p.Ala14324Gly | |
| ENST00000589042.5:c.70166C>G (TTN) MANE Select | ENSP00000467141.1:p.Ala23389Gly | |
| ENST00000591111.5:c.65243C>G (TTN) | ENSP00000465570.1:p.Ala21748Gly | |
| ENST00000615779.4:c.65243C>G (TTN) | ENSP00000483597.1:p.Ala21748Gly | |
| NM_001256850.1:c.65243C>G (TTN) | NP_001243779.1:p.Ala21748Gly | |
| NM_001267550.2:c.70166C>G (TTN) MANE Select | NP_001254479.2:p.Ala23389Gly | |
| NM_003319.4:c.42971C>G (TTN) | NP_003310.4:p.Ala14324Gly | |
| NM_133378.4:c.62462C>G (TTN) | NP_596869.4:p.Ala20821Gly | |
| NM_133432.3:c.43346C>G (TTN) | NP_597676.3:p.Ala14449Gly | |
| NM_133437.4:c.43547C>G (TTN) | NP_597681.4:p.Ala14516Gly | |
| NR_038271.1:n.596+4517G>C (TTN-AS1) | ||
| NR_038272.1:n.2044-6606G>C (TTN-AS1) | ||
| XM_011511729.1:c.69263C>G (TTN) | XP_011510031.1:p.Ala23088Gly | |
| XM_011511730.1:c.43157C>G (TTN) | XP_011510032.1:p.Ala14386Gly | |
| XM_011511731.1:c.43016C>G (TTN) | XP_011510033.1:p.Ala14339Gly | |
| XM_017004819.1:c.69059C>G (TTN) | XP_016860308.1:p.Ala23020Gly | |
| XM_017004820.1:c.64457C>G (TTN) | XP_016860309.1:p.Ala21486Gly | |
| XM_017004821.1:c.64454C>G (TTN) | XP_016860310.1:p.Ala21485Gly | |
| XM_017004822.1:c.61496C>G (TTN) | XP_016860311.1:p.Ala20499Gly | |
| XM_017004823.1:c.43112C>G (TTN) | XP_016860312.1:p.Ala14371Gly | |
| XM_024453094.1:c.64607C>G (TTN) | XP_024308862.1:p.Ala21536Gly | |
| XM_024453095.1:c.64604C>G (TTN) | XP_024308863.1:p.Ala21535Gly | |
| XM_024453096.1:c.64037C>G (TTN) | XP_024308864.1:p.Ala21346Gly | |
| XM_024453097.1:c.61379C>G (TTN) | XP_024308865.1:p.Ala20460Gly | |
| XM_024453098.1:c.61298C>G (TTN) | XP_024308866.1:p.Ala20433Gly | |
| XM_024453099.1:c.43061C>G (TTN) | XP_024308867.1:p.Ala14354Gly | |
| XM_024453100.1:c.32915C>G (TTN) | XP_024308868.1:p.Ala10972Gly |