Linked Data
ClinVar Variation Id:
178920
dbSNP Id:
rs727504540
ExAC:
2:179393651 A / C
gnomAD v2:
2-179393651-A-C
gnomAD v3:
2-178528924-A-C
gnomAD v4:
2-178528924-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178528924A>C , CM000664.2:g.178528924A>C | GRCh38 |
| NC_000002.11:g.179393651A>C , CM000664.1:g.179393651A>C | GRCh37 |
| NC_000002.10:g.179101897A>C | NCBI36 |
| NG_011618.3:g.306879T>G , LRG_391:g.306879T>G | |
| NG_051363.1:g.11098A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99123T>G (TTN) | ENSP00000343764.6:p.Ile33041Met | |
| ENST00000342175.11:c.80208T>G (TTN) | ENSP00000340554.6:p.Ile26736Met | |
| ENST00000359218.10:c.80007T>G (TTN) | ENSP00000352154.5:p.Ile26669Met | |
| ENST00000342175.10:c.80208T>G (TTN) | ENSP00000340554.6:p.Ile26736Met | |
| ENST00000342992.10:c.99123T>G (TTN) | ENSP00000343764.6:p.Ile33041Met | |
| ENST00000359218.9:c.80007T>G (TTN) | ENSP00000352154.5:p.Ile26669Met | |
| ENST00000460472.6:c.79632T>G (TTN) | ENSP00000434586.1:p.Ile26544Met | |
| ENST00000589042.5:c.106827T>G (TTN) MANE Select | ENSP00000467141.1:p.Ile35609Met | |
| ENST00000591111.5:c.101904T>G (TTN) | ENSP00000465570.1:p.Ile33968Met | |
| ENST00000615779.4:c.101904T>G (TTN) | ENSP00000483597.1:p.Ile33968Met | |
| NM_001256850.1:c.101904T>G (TTN) | NP_001243779.1:p.Ile33968Met | |
| NM_001267550.2:c.106827T>G (TTN) MANE Select | NP_001254479.2:p.Ile35609Met | |
| NM_003319.4:c.79632T>G (TTN) | NP_003310.4:p.Ile26544Met | |
| NM_133378.4:c.99123T>G (TTN) | NP_596869.4:p.Ile33041Met | |
| NM_133432.3:c.80007T>G (TTN) | NP_597676.3:p.Ile26669Met | |
| NM_133437.4:c.80208T>G (TTN) | NP_597681.4:p.Ile26736Met | |
| NR_038271.1:n.446+5288A>C (TTN-AS1) | ||
| NR_038272.1:n.219+5288A>C (TTN-AS1) | ||
| XM_011511729.1:c.105924T>G (TTN) | XP_011510031.1:p.Ile35308Met | |
| XM_011511730.1:c.79818T>G (TTN) | XP_011510032.1:p.Ile26606Met | |
| XM_011511731.1:c.79677T>G (TTN) | XP_011510033.1:p.Ile26559Met | |
| XM_017004819.1:c.105720T>G (TTN) | XP_016860308.1:p.Ile35240Met | |
| XM_017004820.1:c.101118T>G (TTN) | XP_016860309.1:p.Ile33706Met | |
| XM_017004821.1:c.101115T>G (TTN) | XP_016860310.1:p.Ile33705Met | |
| XM_017004822.1:c.98157T>G (TTN) | XP_016860311.1:p.Ile32719Met | |
| XM_017004823.1:c.79773T>G (TTN) | XP_016860312.1:p.Ile26591Met | |
| XM_024453094.1:c.101268T>G (TTN) | XP_024308862.1:p.Ile33756Met | |
| XM_024453095.1:c.101265T>G (TTN) | XP_024308863.1:p.Ile33755Met | |
| XM_024453096.1:c.100698T>G (TTN) | XP_024308864.1:p.Ile33566Met | |
| XM_024453097.1:c.98040T>G (TTN) | XP_024308865.1:p.Ile32680Met | |
| XM_024453098.1:c.97959T>G (TTN) | XP_024308866.1:p.Ile32653Met | |
| XM_024453099.1:c.79722T>G (TTN) | XP_024308867.1:p.Ile26574Met | |
| XM_024453100.1:c.69576T>G (TTN) | XP_024308868.1:p.Ile23192Met |