Linked Data
ClinVar Variation Id:
202973
dbSNP Id:
rs75022916
ExAC:
2:179416636 G / A
gnomAD v2:
2-179416636-G-A
gnomAD v3:
2-178551909-G-A
gnomAD v4:
2-178551909-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178551909G>A , CM000664.2:g.178551909G>A | GRCh38 |
| NC_000002.11:g.179416636G>A , CM000664.1:g.179416636G>A | GRCh37 |
| NC_000002.10:g.179124882G>A | NCBI36 |
| NG_011618.3:g.283894C>T , LRG_391:g.283894C>T | |
| NG_051363.1:g.34083G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83287C>T (TTN) | ENSP00000343764.6:p.Pro27763Ser | |
| ENST00000342175.11:c.64372C>T (TTN) | ENSP00000340554.6:p.Pro21458Ser | |
| ENST00000359218.10:c.64171C>T (TTN) | ENSP00000352154.5:p.Pro21391Ser | |
| ENST00000342175.10:c.64372C>T (TTN) | ENSP00000340554.6:p.Pro21458Ser | |
| ENST00000342992.10:c.83287C>T (TTN) | ENSP00000343764.6:p.Pro27763Ser | |
| ENST00000359218.9:c.64171C>T (TTN) | ENSP00000352154.5:p.Pro21391Ser | |
| ENST00000460472.6:c.63796C>T (TTN) | ENSP00000434586.1:p.Pro21266Ser | |
| ENST00000589042.5:c.90991C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro30331Ser | |
| ENST00000591111.5:c.86068C>T (TTN) | ENSP00000465570.1:p.Pro28690Ser | |
| ENST00000615779.4:c.86068C>T (TTN) | ENSP00000483597.1:p.Pro28690Ser | |
| NM_001256850.1:c.86068C>T (TTN) | NP_001243779.1:p.Pro28690Ser | |
| NM_001267550.2:c.90991C>T (TTN) MANE Select | NP_001254479.2:p.Pro30331Ser | |
| NM_003319.4:c.63796C>T (TTN) | NP_003310.4:p.Pro21266Ser | |
| NM_133378.4:c.83287C>T (TTN) | NP_596869.4:p.Pro27763Ser | |
| NM_133432.3:c.64171C>T (TTN) | NP_597676.3:p.Pro21391Ser | |
| NM_133437.4:c.64372C>T (TTN) | NP_597681.4:p.Pro21458Ser | |
| NR_038271.1:n.447-19391G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+9548G>A (TTN-AS1) | ||
| XM_011511729.1:c.90088C>T (TTN) | XP_011510031.1:p.Pro30030Ser | |
| XM_011511730.1:c.63982C>T (TTN) | XP_011510032.1:p.Pro21328Ser | |
| XM_011511731.1:c.63841C>T (TTN) | XP_011510033.1:p.Pro21281Ser | |
| XM_017004819.1:c.89884C>T (TTN) | XP_016860308.1:p.Pro29962Ser | |
| XM_017004820.1:c.85282C>T (TTN) | XP_016860309.1:p.Pro28428Ser | |
| XM_017004821.1:c.85279C>T (TTN) | XP_016860310.1:p.Pro28427Ser | |
| XM_017004822.1:c.82321C>T (TTN) | XP_016860311.1:p.Pro27441Ser | |
| XM_017004823.1:c.63937C>T (TTN) | XP_016860312.1:p.Pro21313Ser | |
| XM_024453094.1:c.85432C>T (TTN) | XP_024308862.1:p.Pro28478Ser | |
| XM_024453095.1:c.85429C>T (TTN) | XP_024308863.1:p.Pro28477Ser | |
| XM_024453096.1:c.84862C>T (TTN) | XP_024308864.1:p.Pro28288Ser | |
| XM_024453097.1:c.82204C>T (TTN) | XP_024308865.1:p.Pro27402Ser | |
| XM_024453098.1:c.82123C>T (TTN) | XP_024308866.1:p.Pro27375Ser | |
| XM_024453099.1:c.63886C>T (TTN) | XP_024308867.1:p.Pro21296Ser | |
| XM_024453100.1:c.53740C>T (TTN) | XP_024308868.1:p.Pro17914Ser |