Linked Data
ClinVar Variation Id:
2016957
dbSNP Id:
rs1282893863
gnomAD v2:
2-179395223-T-C
gnomAD v4:
2-178530496-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530496T>C , CM000664.2:g.178530496T>C | GRCh38 |
| NC_000002.11:g.179395223T>C , CM000664.1:g.179395223T>C | GRCh37 |
| NC_000002.10:g.179103469T>C | NCBI36 |
| NG_011618.3:g.305307A>G , LRG_391:g.305307A>G | |
| NG_051363.1:g.12670T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98415A>G (TTN) | ENSP00000343764.6:p.Gln32805= | |
| ENST00000342175.11:c.79500A>G (TTN) | ENSP00000340554.6:p.Gln26500= | |
| ENST00000359218.10:c.79299A>G (TTN) | ENSP00000352154.5:p.Gln26433= | |
| ENST00000342175.10:c.79500A>G (TTN) | ENSP00000340554.6:p.Gln26500= | |
| ENST00000342992.10:c.98415A>G (TTN) | ENSP00000343764.6:p.Gln32805= | |
| ENST00000359218.9:c.79299A>G (TTN) | ENSP00000352154.5:p.Gln26433= | |
| ENST00000460472.6:c.78924A>G (TTN) | ENSP00000434586.1:p.Gln26308= | |
| ENST00000589042.5:c.106119A>G (TTN) MANE Select | ENSP00000467141.1:p.Gln35373= | |
| ENST00000591111.5:c.101196A>G (TTN) | ENSP00000465570.1:p.Gln33732= | |
| ENST00000615779.4:c.101196A>G (TTN) | ENSP00000483597.1:p.Gln33732= | |
| NM_001256850.1:c.101196A>G (TTN) | NP_001243779.1:p.Gln33732= | |
| NM_001267550.2:c.106119A>G (TTN) MANE Select | NP_001254479.2:p.Gln35373= | |
| NM_003319.4:c.78924A>G (TTN) | NP_003310.4:p.Gln26308= | |
| NM_133378.4:c.98415A>G (TTN) | NP_596869.4:p.Gln32805= | |
| NM_133432.3:c.79299A>G (TTN) | NP_597676.3:p.Gln26433= | |
| NM_133437.4:c.79500A>G (TTN) | NP_597681.4:p.Gln26500= | |
| NR_038271.1:n.446+6860T>C (TTN-AS1) | ||
| NR_038272.1:n.220-5236T>C (TTN-AS1) | ||
| XM_011511729.1:c.105216A>G (TTN) | XP_011510031.1:p.Gln35072= | |
| XM_011511730.1:c.79110A>G (TTN) | XP_011510032.1:p.Gln26370= | |
| XM_011511731.1:c.78969A>G (TTN) | XP_011510033.1:p.Gln26323= | |
| XM_017004819.1:c.105012A>G (TTN) | XP_016860308.1:p.Gln35004= | |
| XM_017004820.1:c.100410A>G (TTN) | XP_016860309.1:p.Gln33470= | |
| XM_017004821.1:c.100407A>G (TTN) | XP_016860310.1:p.Gln33469= | |
| XM_017004822.1:c.97449A>G (TTN) | XP_016860311.1:p.Gln32483= | |
| XM_017004823.1:c.79065A>G (TTN) | XP_016860312.1:p.Gln26355= | |
| XM_024453094.1:c.100560A>G (TTN) | XP_024308862.1:p.Gln33520= | |
| XM_024453095.1:c.100557A>G (TTN) | XP_024308863.1:p.Gln33519= | |
| XM_024453096.1:c.99990A>G (TTN) | XP_024308864.1:p.Gln33330= | |
| XM_024453097.1:c.97332A>G (TTN) | XP_024308865.1:p.Gln32444= | |
| XM_024453098.1:c.97251A>G (TTN) | XP_024308866.1:p.Gln32417= | |
| XM_024453099.1:c.79014A>G (TTN) | XP_024308867.1:p.Gln26338= | |
| XM_024453100.1:c.68868A>G (TTN) | XP_024308868.1:p.Gln22956= |