Linked Data
ClinVar Variation Id:
196641
dbSNP Id:
rs750855113
ExAC:
2:179403881 A / G
gnomAD v2:
2-179403881-A-G
gnomAD v3:
2-178539154-A-G
gnomAD v4:
2-178539154-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539154A>G , CM000664.2:g.178539154A>G | GRCh38 |
| NC_000002.11:g.179403881A>G , CM000664.1:g.179403881A>G | GRCh37 |
| NC_000002.10:g.179112127A>G | NCBI36 |
| NG_011618.3:g.296649T>C , LRG_391:g.296649T>C | |
| NG_051363.1:g.21328A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91077T>C (TTN) | ENSP00000343764.6:p.Ser30359= | |
| ENST00000342175.11:c.72162T>C (TTN) | ENSP00000340554.6:p.Ser24054= | |
| ENST00000359218.10:c.71961T>C (TTN) | ENSP00000352154.5:p.Ser23987= | |
| ENST00000342175.10:c.72162T>C (TTN) | ENSP00000340554.6:p.Ser24054= | |
| ENST00000342992.10:c.91077T>C (TTN) | ENSP00000343764.6:p.Ser30359= | |
| ENST00000359218.9:c.71961T>C (TTN) | ENSP00000352154.5:p.Ser23987= | |
| ENST00000460472.6:c.71586T>C (TTN) | ENSP00000434586.1:p.Ser23862= | |
| ENST00000589042.5:c.98781T>C (TTN) MANE Select | ENSP00000467141.1:p.Ser32927= | |
| ENST00000591111.5:c.93858T>C (TTN) | ENSP00000465570.1:p.Ser31286= | |
| ENST00000615779.4:c.93858T>C (TTN) | ENSP00000483597.1:p.Ser31286= | |
| NM_001256850.1:c.93858T>C (TTN) | NP_001243779.1:p.Ser31286= | |
| NM_001267550.2:c.98781T>C (TTN) MANE Select | NP_001254479.2:p.Ser32927= | |
| NM_003319.4:c.71586T>C (TTN) | NP_003310.4:p.Ser23862= | |
| NM_133378.4:c.91077T>C (TTN) | NP_596869.4:p.Ser30359= | |
| NM_133432.3:c.71961T>C (TTN) | NP_597676.3:p.Ser23987= | |
| NM_133437.4:c.72162T>C (TTN) | NP_597681.4:p.Ser24054= | |
| NR_038271.1:n.446+15518A>G (TTN-AS1) | ||
| NR_038272.1:n.1104A>G (TTN-AS1) | ||
| XM_011511729.1:c.97878T>C (TTN) | XP_011510031.1:p.Ser32626= | |
| XM_011511730.1:c.71772T>C (TTN) | XP_011510032.1:p.Ser23924= | |
| XM_011511731.1:c.71631T>C (TTN) | XP_011510033.1:p.Ser23877= | |
| XM_017004819.1:c.97674T>C (TTN) | XP_016860308.1:p.Ser32558= | |
| XM_017004820.1:c.93072T>C (TTN) | XP_016860309.1:p.Ser31024= | |
| XM_017004821.1:c.93069T>C (TTN) | XP_016860310.1:p.Ser31023= | |
| XM_017004822.1:c.90111T>C (TTN) | XP_016860311.1:p.Ser30037= | |
| XM_017004823.1:c.71727T>C (TTN) | XP_016860312.1:p.Ser23909= | |
| XM_024453094.1:c.93222T>C (TTN) | XP_024308862.1:p.Ser31074= | |
| XM_024453095.1:c.93219T>C (TTN) | XP_024308863.1:p.Ser31073= | |
| XM_024453096.1:c.92652T>C (TTN) | XP_024308864.1:p.Ser30884= | |
| XM_024453097.1:c.89994T>C (TTN) | XP_024308865.1:p.Ser29998= | |
| XM_024453098.1:c.89913T>C (TTN) | XP_024308866.1:p.Ser29971= | |
| XM_024453099.1:c.71676T>C (TTN) | XP_024308867.1:p.Ser23892= | |
| XM_024453100.1:c.61530T>C (TTN) | XP_024308868.1:p.Ser20510= |