Linked Data
ClinVar Variation Id:
47225
ClinVar RCV Id:
RCV000040495
RCV000253653
RCV000466167
RCV000768959
RCV001132125
RCV001132126
RCV001132122
RCV001132124
RCV001200435
RCV001132123
RCV004541168
dbSNP Id:
rs200825430
ExAC:
2:179447926 A / G
gnomAD v2:
2-179447926-A-G
gnomAD v3:
2-178583199-A-G
gnomAD v4:
2-178583199-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178583199A>G , CM000664.2:g.178583199A>G | GRCh38 |
| NC_000002.11:g.179447926A>G , CM000664.1:g.179447926A>G | GRCh37 |
| NC_000002.10:g.179156172A>G | NCBI36 |
| NG_011618.3:g.252604T>C , LRG_391:g.252604T>C | |
| NG_051363.1:g.65373A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57900T>C (TTN) | ENSP00000343764.6:p.Ala19300= | |
| ENST00000342175.11:c.38985T>C (TTN) | ENSP00000340554.6:p.Ala12995= | |
| ENST00000359218.10:c.38784T>C (TTN) | ENSP00000352154.5:p.Ala12928= | |
| ENST00000342175.10:c.38985T>C (TTN) | ENSP00000340554.6:p.Ala12995= | |
| ENST00000342992.10:c.57900T>C (TTN) | ENSP00000343764.6:p.Ala19300= | |
| ENST00000359218.9:c.38784T>C (TTN) | ENSP00000352154.5:p.Ala12928= | |
| ENST00000460472.6:c.38409T>C (TTN) | ENSP00000434586.1:p.Ala12803= | |
| ENST00000589042.5:c.65604T>C (TTN) MANE Select | ENSP00000467141.1:p.Ala21868= | |
| ENST00000591111.5:c.60681T>C (TTN) | ENSP00000465570.1:p.Ala20227= | |
| ENST00000615779.4:c.60681T>C (TTN) | ENSP00000483597.1:p.Ala20227= | |
| NM_001256850.1:c.60681T>C (TTN) | NP_001243779.1:p.Ala20227= | |
| NM_001267550.2:c.65604T>C (TTN) MANE Select | NP_001254479.2:p.Ala21868= | |
| NM_003319.4:c.38409T>C (TTN) | NP_003310.4:p.Ala12803= | |
| NM_133378.4:c.57900T>C (TTN) | NP_596869.4:p.Ala19300= | |
| NM_133432.3:c.38784T>C (TTN) | NP_597676.3:p.Ala12928= | |
| NM_133437.4:c.38985T>C (TTN) | NP_597681.4:p.Ala12995= | |
| NR_038271.1:n.596+11750A>G (TTN-AS1) | ||
| NR_038272.1:n.2369+18A>G (TTN-AS1) | ||
| XM_011511729.1:c.64701T>C (TTN) | XP_011510031.1:p.Ala21567= | |
| XM_011511730.1:c.38595T>C (TTN) | XP_011510032.1:p.Ala12865= | |
| XM_011511731.1:c.38454T>C (TTN) | XP_011510033.1:p.Ala12818= | |
| XM_017004819.1:c.64497T>C (TTN) | XP_016860308.1:p.Ala21499= | |
| XM_017004820.1:c.59895T>C (TTN) | XP_016860309.1:p.Ala19965= | |
| XM_017004821.1:c.59892T>C (TTN) | XP_016860310.1:p.Ala19964= | |
| XM_017004822.1:c.56934T>C (TTN) | XP_016860311.1:p.Ala18978= | |
| XM_017004823.1:c.38550T>C (TTN) | XP_016860312.1:p.Ala12850= | |
| XM_024453094.1:c.60045T>C (TTN) | XP_024308862.1:p.Ala20015= | |
| XM_024453095.1:c.60042T>C (TTN) | XP_024308863.1:p.Ala20014= | |
| XM_024453096.1:c.59475T>C (TTN) | XP_024308864.1:p.Ala19825= | |
| XM_024453097.1:c.56817T>C (TTN) | XP_024308865.1:p.Ala18939= | |
| XM_024453098.1:c.56736T>C (TTN) | XP_024308866.1:p.Ala18912= | |
| XM_024453099.1:c.38499T>C (TTN) | XP_024308867.1:p.Ala12833= | |
| XM_024453100.1:c.28353T>C (TTN) | XP_024308868.1:p.Ala9451= |