Linked Data
ClinVar Variation Id:
516827
dbSNP Id:
rs151193056
ExAC:
2:179454354 T / C
gnomAD v2:
2-179454354-T-C
gnomAD v3:
2-178589627-T-C
gnomAD v4:
2-178589627-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589627T>C , CM000664.2:g.178589627T>C | GRCh38 |
| NC_000002.11:g.179454354T>C , CM000664.1:g.179454354T>C | GRCh37 |
| NC_000002.10:g.179162600T>C | NCBI36 |
| NG_011618.3:g.246176A>G , LRG_391:g.246176A>G | |
| NG_051363.1:g.71801T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.54394A>G (TTN) | ENSP00000343764.6:p.Asn18132Asp | |
| ENST00000342175.11:c.35479A>G (TTN) | ENSP00000340554.6:p.Asn11827Asp | |
| ENST00000359218.10:c.35278A>G (TTN) | ENSP00000352154.5:p.Asn11760Asp | |
| ENST00000342175.10:c.35479A>G (TTN) | ENSP00000340554.6:p.Asn11827Asp | |
| ENST00000342992.10:c.54394A>G (TTN) | ENSP00000343764.6:p.Asn18132Asp | |
| ENST00000359218.9:c.35278A>G (TTN) | ENSP00000352154.5:p.Asn11760Asp | |
| ENST00000460472.6:c.34903A>G (TTN) | ENSP00000434586.1:p.Asn11635Asp | |
| ENST00000589042.5:c.62098A>G (TTN) MANE Select | ENSP00000467141.1:p.Asn20700Asp | |
| ENST00000591111.5:c.57175A>G (TTN) | ENSP00000465570.1:p.Asn19059Asp | |
| ENST00000615779.4:c.57175A>G (TTN) | ENSP00000483597.1:p.Asn19059Asp | |
| NM_001256850.1:c.57175A>G (TTN) | NP_001243779.1:p.Asn19059Asp | |
| NM_001267550.2:c.62098A>G (TTN) MANE Select | NP_001254479.2:p.Asn20700Asp | |
| NM_003319.4:c.34903A>G (TTN) | NP_003310.4:p.Asn11635Asp | |
| NM_133378.4:c.54394A>G (TTN) | NP_596869.4:p.Asn18132Asp | |
| NM_133432.3:c.35278A>G (TTN) | NP_597676.3:p.Asn11760Asp | |
| NM_133437.4:c.35479A>G (TTN) | NP_597681.4:p.Asn11827Asp | |
| NR_038271.1:n.597-7969T>C (TTN-AS1) | ||
| NR_038272.1:n.3189-1512T>C (TTN-AS1) | ||
| XM_011511729.1:c.61195A>G (TTN) | XP_011510031.1:p.Asn20399Asp | |
| XM_011511730.1:c.35089A>G (TTN) | XP_011510032.1:p.Asn11697Asp | |
| XM_011511731.1:c.34948A>G (TTN) | XP_011510033.1:p.Asn11650Asp | |
| XM_017004819.1:c.60991A>G (TTN) | XP_016860308.1:p.Asn20331Asp | |
| XM_017004820.1:c.56389A>G (TTN) | XP_016860309.1:p.Asn18797Asp | |
| XM_017004821.1:c.56386A>G (TTN) | XP_016860310.1:p.Asn18796Asp | |
| XM_017004822.1:c.53428A>G (TTN) | XP_016860311.1:p.Asn17810Asp | |
| XM_017004823.1:c.35044A>G (TTN) | XP_016860312.1:p.Asn11682Asp | |
| XM_024453094.1:c.56539A>G (TTN) | XP_024308862.1:p.Asn18847Asp | |
| XM_024453095.1:c.56536A>G (TTN) | XP_024308863.1:p.Asn18846Asp | |
| XM_024453096.1:c.55969A>G (TTN) | XP_024308864.1:p.Asn18657Asp | |
| XM_024453097.1:c.53311A>G (TTN) | XP_024308865.1:p.Asn17771Asp | |
| XM_024453098.1:c.53230A>G (TTN) | XP_024308866.1:p.Asn17744Asp | |
| XM_024453099.1:c.34993A>G (TTN) | XP_024308867.1:p.Asn11665Asp | |
| XM_024453100.1:c.24847A>G (TTN) | XP_024308868.1:p.Asn8283Asp |