Linked Data
ClinVar Variation Id:
202930
dbSNP Id:
rs56330345
ExAC:
2:179425409 C / T
gnomAD v2:
2-179425409-C-T
gnomAD v3:
2-178560682-C-T
gnomAD v4:
2-178560682-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560682C>T , CM000664.2:g.178560682C>T | GRCh38 |
| NC_000002.11:g.179425409C>T , CM000664.1:g.179425409C>T | GRCh37 |
| NC_000002.10:g.179133655C>T | NCBI36 |
| NG_011618.3:g.275121G>A , LRG_391:g.275121G>A | |
| NG_051363.1:g.42856C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.77746G>A (TTN) | ENSP00000343764.6:p.Asp25916Asn | |
| ENST00000342175.11:c.58831G>A (TTN) | ENSP00000340554.6:p.Asp19611Asn | |
| ENST00000359218.10:c.58630G>A (TTN) | ENSP00000352154.5:p.Asp19544Asn | |
| ENST00000342175.10:c.58831G>A (TTN) | ENSP00000340554.6:p.Asp19611Asn | |
| ENST00000342992.10:c.77746G>A (TTN) | ENSP00000343764.6:p.Asp25916Asn | |
| ENST00000359218.9:c.58630G>A (TTN) | ENSP00000352154.5:p.Asp19544Asn | |
| ENST00000460472.6:c.58255G>A (TTN) | ENSP00000434586.1:p.Asp19419Asn | |
| ENST00000589042.5:c.85450G>A (TTN) MANE Select | ENSP00000467141.1:p.Asp28484Asn | |
| ENST00000591111.5:c.80527G>A (TTN) | ENSP00000465570.1:p.Asp26843Asn | |
| ENST00000615779.4:c.80527G>A (TTN) | ENSP00000483597.1:p.Asp26843Asn | |
| NM_001256850.1:c.80527G>A (TTN) | NP_001243779.1:p.Asp26843Asn | |
| NM_001267550.2:c.85450G>A (TTN) MANE Select | NP_001254479.2:p.Asp28484Asn | |
| NM_003319.4:c.58255G>A (TTN) | NP_003310.4:p.Asp19419Asn | |
| NM_133378.4:c.77746G>A (TTN) | NP_596869.4:p.Asp25916Asn | |
| NM_133432.3:c.58630G>A (TTN) | NP_597676.3:p.Asp19544Asn | |
| NM_133437.4:c.58831G>A (TTN) | NP_597681.4:p.Asp19611Asn | |
| NR_038271.1:n.447-10618C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+18321C>T (TTN-AS1) | ||
| XM_011511729.1:c.84547G>A (TTN) | XP_011510031.1:p.Asp28183Asn | |
| XM_011511730.1:c.58441G>A (TTN) | XP_011510032.1:p.Asp19481Asn | |
| XM_011511731.1:c.58300G>A (TTN) | XP_011510033.1:p.Asp19434Asn | |
| XM_017004819.1:c.84343G>A (TTN) | XP_016860308.1:p.Asp28115Asn | |
| XM_017004820.1:c.79741G>A (TTN) | XP_016860309.1:p.Asp26581Asn | |
| XM_017004821.1:c.79738G>A (TTN) | XP_016860310.1:p.Asp26580Asn | |
| XM_017004822.1:c.76780G>A (TTN) | XP_016860311.1:p.Asp25594Asn | |
| XM_017004823.1:c.58396G>A (TTN) | XP_016860312.1:p.Asp19466Asn | |
| XM_024453094.1:c.79891G>A (TTN) | XP_024308862.1:p.Asp26631Asn | |
| XM_024453095.1:c.79888G>A (TTN) | XP_024308863.1:p.Asp26630Asn | |
| XM_024453096.1:c.79321G>A (TTN) | XP_024308864.1:p.Asp26441Asn | |
| XM_024453097.1:c.76663G>A (TTN) | XP_024308865.1:p.Asp25555Asn | |
| XM_024453098.1:c.76582G>A (TTN) | XP_024308866.1:p.Asp25528Asn | |
| XM_024453099.1:c.58345G>A (TTN) | XP_024308867.1:p.Asp19449Asn | |
| XM_024453100.1:c.48199G>A (TTN) | XP_024308868.1:p.Asp16067Asn |