Linked Data
ClinVar Variation Id:
263669
dbSNP Id:
rs765148928
ExAC:
2:179469789 C / T
gnomAD v2:
2-179469789-C-T
gnomAD v3:
2-178605062-C-T
gnomAD v4:
2-178605062-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178605062C>T , CM000664.2:g.178605062C>T | GRCh38 |
| NC_000002.11:g.179469789C>T , CM000664.1:g.179469789C>T | GRCh37 |
| NC_000002.10:g.179178034C>T | NCBI36 |
| NG_011618.3:g.230741G>A , LRG_391:g.230741G>A | |
| NG_051363.1:g.87236C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46411G>A (TTN) | ENSP00000343764.6:p.Asp15471Asn | |
| ENST00000342175.11:c.27496G>A (TTN) | ENSP00000340554.6:p.Asp9166Asn | |
| ENST00000359218.10:c.27295G>A (TTN) | ENSP00000352154.5:p.Asp9099Asn | |
| ENST00000342175.10:c.27496G>A (TTN) | ENSP00000340554.6:p.Asp9166Asn | |
| ENST00000342992.10:c.46411G>A (TTN) | ENSP00000343764.6:p.Asp15471Asn | |
| ENST00000359218.9:c.27295G>A (TTN) | ENSP00000352154.5:p.Asp9099Asn | |
| ENST00000460472.6:c.26920G>A (TTN) | ENSP00000434586.1:p.Asp8974Asn | |
| ENST00000589042.5:c.54115G>A (TTN) MANE Select | ENSP00000467141.1:p.Asp18039Asn | |
| ENST00000591111.5:c.49192G>A (TTN) | ENSP00000465570.1:p.Asp16398Asn | |
| ENST00000615779.4:c.49192G>A (TTN) | ENSP00000483597.1:p.Asp16398Asn | |
| NM_001256850.1:c.49192G>A (TTN) | NP_001243779.1:p.Asp16398Asn | |
| NM_001267550.2:c.54115G>A (TTN) MANE Select | NP_001254479.2:p.Asp18039Asn | |
| NM_003319.4:c.26920G>A (TTN) | NP_003310.4:p.Asp8974Asn | |
| NM_133378.4:c.46411G>A (TTN) | NP_596869.4:p.Asp15471Asn | |
| NM_133432.3:c.27295G>A (TTN) | NP_597676.3:p.Asp9099Asn | |
| NM_133437.4:c.27496G>A (TTN) | NP_597681.4:p.Asp9166Asn | |
| NR_038271.1:n.683-3105C>T (TTN-AS1) | ||
| NR_038272.1:n.4249C>T (TTN-AS1) | ||
| XM_011511729.1:c.53212G>A (TTN) | XP_011510031.1:p.Asp17738Asn | |
| XM_011511730.1:c.27106G>A (TTN) | XP_011510032.1:p.Asp9036Asn | |
| XM_011511731.1:c.26965G>A (TTN) | XP_011510033.1:p.Asp8989Asn | |
| XM_017004819.1:c.53008G>A (TTN) | XP_016860308.1:p.Asp17670Asn | |
| XM_017004820.1:c.48406G>A (TTN) | XP_016860309.1:p.Asp16136Asn | |
| XM_017004821.1:c.48403G>A (TTN) | XP_016860310.1:p.Asp16135Asn | |
| XM_017004822.1:c.45445G>A (TTN) | XP_016860311.1:p.Asp15149Asn | |
| XM_017004823.1:c.27061G>A (TTN) | XP_016860312.1:p.Asp9021Asn | |
| XM_024453094.1:c.48556G>A (TTN) | XP_024308862.1:p.Asp16186Asn | |
| XM_024453095.1:c.48553G>A (TTN) | XP_024308863.1:p.Asp16185Asn | |
| XM_024453096.1:c.47986G>A (TTN) | XP_024308864.1:p.Asp15996Asn | |
| XM_024453097.1:c.45328G>A (TTN) | XP_024308865.1:p.Asp15110Asn | |
| XM_024453098.1:c.45247G>A (TTN) | XP_024308866.1:p.Asp15083Asn | |
| XM_024453099.1:c.27010G>A (TTN) | XP_024308867.1:p.Asp9004Asn | |
| XM_024453100.1:c.16864G>A (TTN) | XP_024308868.1:p.Asp5622Asn |