Linked Data
ClinVar Variation Id:
12654
dbSNP Id:
rs281864928
ExAC:
2:179391875 A / T
gnomAD v2:
2-179391875-A-T
gnomAD v3:
2-178527148-A-T
gnomAD v4:
2-178527148-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527148A>T , CM000664.2:g.178527148A>T | GRCh38 |
| NC_000002.11:g.179391875A>T , CM000664.1:g.179391875A>T | GRCh37 |
| NC_000002.10:g.179100121A>T | NCBI36 |
| NG_011618.3:g.308655T>A , LRG_391:g.308655T>A | |
| NG_051363.1:g.9322A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.100136T>A (TTN) | ENSP00000343764.6:p.Ile33379Asn | |
| ENST00000342175.11:c.81221T>A (TTN) | ENSP00000340554.6:p.Ile27074Asn | |
| ENST00000359218.10:c.81020T>A (TTN) | ENSP00000352154.5:p.Ile27007Asn | |
| ENST00000342175.10:c.81221T>A (TTN) | ENSP00000340554.6:p.Ile27074Asn | |
| ENST00000342992.10:c.100136T>A (TTN) | ENSP00000343764.6:p.Ile33379Asn | |
| ENST00000359218.9:c.81020T>A (TTN) | ENSP00000352154.5:p.Ile27007Asn | |
| ENST00000460472.6:c.80645T>A (TTN) | ENSP00000434586.1:p.Ile26882Asn | |
| ENST00000589042.5:c.107840T>A (TTN) MANE Select | ENSP00000467141.1:p.Ile35947Asn | |
| ENST00000591111.5:c.102917T>A (TTN) | ENSP00000465570.1:p.Ile34306Asn | |
| ENST00000615779.4:c.102917T>A (TTN) | ENSP00000483597.1:p.Ile34306Asn | |
| NM_001256850.1:c.102917T>A (TTN) | NP_001243779.1:p.Ile34306Asn | |
| NM_001267550.2:c.107840T>A (TTN) MANE Select | NP_001254479.2:p.Ile35947Asn | |
| NM_003319.4:c.80645T>A (TTN) | NP_003310.4:p.Ile26882Asn | |
| NM_133378.4:c.100136T>A (TTN) | NP_596869.4:p.Ile33379Asn | |
| NM_133432.3:c.81020T>A (TTN) | NP_597676.3:p.Ile27007Asn | |
| NM_133437.4:c.81221T>A (TTN) | NP_597681.4:p.Ile27074Asn | |
| NR_038271.1:n.446+3512A>T (TTN-AS1) | ||
| NR_038272.1:n.219+3512A>T (TTN-AS1) | ||
| XM_011511729.1:c.106937T>A (TTN) | XP_011510031.1:p.Ile35646Asn | |
| XM_011511730.1:c.80831T>A (TTN) | XP_011510032.1:p.Ile26944Asn | |
| XM_011511731.1:c.80690T>A (TTN) | XP_011510033.1:p.Ile26897Asn | |
| XM_017004819.1:c.106733T>A (TTN) | XP_016860308.1:p.Ile35578Asn | |
| XM_017004820.1:c.102131T>A (TTN) | XP_016860309.1:p.Ile34044Asn | |
| XM_017004821.1:c.102128T>A (TTN) | XP_016860310.1:p.Ile34043Asn | |
| XM_017004822.1:c.99170T>A (TTN) | XP_016860311.1:p.Ile33057Asn | |
| XM_017004823.1:c.80786T>A (TTN) | XP_016860312.1:p.Ile26929Asn | |
| XM_024453094.1:c.102281T>A (TTN) | XP_024308862.1:p.Ile34094Asn | |
| XM_024453095.1:c.102278T>A (TTN) | XP_024308863.1:p.Ile34093Asn | |
| XM_024453096.1:c.101711T>A (TTN) | XP_024308864.1:p.Ile33904Asn | |
| XM_024453097.1:c.99053T>A (TTN) | XP_024308865.1:p.Ile33018Asn | |
| XM_024453098.1:c.98972T>A (TTN) | XP_024308866.1:p.Ile32991Asn | |
| XM_024453099.1:c.80735T>A (TTN) | XP_024308867.1:p.Ile26912Asn | |
| XM_024453100.1:c.70589T>A (TTN) | XP_024308868.1:p.Ile23530Asn |