Linked Data
ClinVar Variation Id:
202855
dbSNP Id:
rs372787601
ExAC:
2:179436554 T / C
gnomAD v2:
2-179436554-T-C
gnomAD v3:
2-178571827-T-C
gnomAD v4:
2-178571827-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178571827T>C , CM000664.2:g.178571827T>C | GRCh38 |
| NC_000002.11:g.179436554T>C , CM000664.1:g.179436554T>C | GRCh37 |
| NC_000002.10:g.179144800T>C | NCBI36 |
| NG_011618.3:g.263976A>G , LRG_391:g.263976A>G | |
| NG_051363.1:g.54001T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66601A>G (TTN) | ENSP00000343764.6:p.Asn22201Asp | |
| ENST00000342175.11:c.47686A>G (TTN) | ENSP00000340554.6:p.Asn15896Asp | |
| ENST00000359218.10:c.47485A>G (TTN) | ENSP00000352154.5:p.Asn15829Asp | |
| ENST00000342175.10:c.47686A>G (TTN) | ENSP00000340554.6:p.Asn15896Asp | |
| ENST00000342992.10:c.66601A>G (TTN) | ENSP00000343764.6:p.Asn22201Asp | |
| ENST00000359218.9:c.47485A>G (TTN) | ENSP00000352154.5:p.Asn15829Asp | |
| ENST00000460472.6:c.47110A>G (TTN) | ENSP00000434586.1:p.Asn15704Asp | |
| ENST00000589042.5:c.74305A>G (TTN) MANE Select | ENSP00000467141.1:p.Asn24769Asp | |
| ENST00000591111.5:c.69382A>G (TTN) | ENSP00000465570.1:p.Asn23128Asp | |
| ENST00000615779.4:c.69382A>G (TTN) | ENSP00000483597.1:p.Asn23128Asp | |
| NM_001256850.1:c.69382A>G (TTN) | NP_001243779.1:p.Asn23128Asp | |
| NM_001267550.2:c.74305A>G (TTN) MANE Select | NP_001254479.2:p.Asn24769Asp | |
| NM_003319.4:c.47110A>G (TTN) | NP_003310.4:p.Asn15704Asp | |
| NM_133378.4:c.66601A>G (TTN) | NP_596869.4:p.Asn22201Asp | |
| NM_133432.3:c.47485A>G (TTN) | NP_597676.3:p.Asn15829Asp | |
| NM_133437.4:c.47686A>G (TTN) | NP_597681.4:p.Asn15896Asp | |
| NR_038271.1:n.596+378T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-10745T>C (TTN-AS1) | ||
| XM_011511729.1:c.73402A>G (TTN) | XP_011510031.1:p.Asn24468Asp | |
| XM_011511730.1:c.47296A>G (TTN) | XP_011510032.1:p.Asn15766Asp | |
| XM_011511731.1:c.47155A>G (TTN) | XP_011510033.1:p.Asn15719Asp | |
| XM_017004819.1:c.73198A>G (TTN) | XP_016860308.1:p.Asn24400Asp | |
| XM_017004820.1:c.68596A>G (TTN) | XP_016860309.1:p.Asn22866Asp | |
| XM_017004821.1:c.68593A>G (TTN) | XP_016860310.1:p.Asn22865Asp | |
| XM_017004822.1:c.65635A>G (TTN) | XP_016860311.1:p.Asn21879Asp | |
| XM_017004823.1:c.47251A>G (TTN) | XP_016860312.1:p.Asn15751Asp | |
| XM_024453094.1:c.68746A>G (TTN) | XP_024308862.1:p.Asn22916Asp | |
| XM_024453095.1:c.68743A>G (TTN) | XP_024308863.1:p.Asn22915Asp | |
| XM_024453096.1:c.68176A>G (TTN) | XP_024308864.1:p.Asn22726Asp | |
| XM_024453097.1:c.65518A>G (TTN) | XP_024308865.1:p.Asn21840Asp | |
| XM_024453098.1:c.65437A>G (TTN) | XP_024308866.1:p.Asn21813Asp | |
| XM_024453099.1:c.47200A>G (TTN) | XP_024308867.1:p.Asn15734Asp | |
| XM_024453100.1:c.37054A>G (TTN) | XP_024308868.1:p.Asn12352Asp |