Linked Data
ClinVar Variation Id:
203017
ClinVar RCV Id:
RCV000227090
RCV000298510
RCV000315003
RCV000351155
RCV000398498
RCV000400495
RCV000765537
RCV001721172
dbSNP Id:
rs763270971
ExAC:
2:179409083 C / T
gnomAD v2:
2-179409083-C-T
gnomAD v3:
2-178544356-C-T
gnomAD v4:
2-178544356-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544356C>T , CM000664.2:g.178544356C>T | GRCh38 |
| NC_000002.11:g.179409083C>T , CM000664.1:g.179409083C>T | GRCh37 |
| NC_000002.10:g.179117329C>T | NCBI36 |
| NG_011618.3:g.291447G>A , LRG_391:g.291447G>A | |
| NG_051363.1:g.26530C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88169G>A (TTN) | ENSP00000343764.6:p.Arg29390Gln | |
| ENST00000342175.11:c.69254G>A (TTN) | ENSP00000340554.6:p.Arg23085Gln | |
| ENST00000359218.10:c.69053G>A (TTN) | ENSP00000352154.5:p.Arg23018Gln | |
| ENST00000342175.10:c.69254G>A (TTN) | ENSP00000340554.6:p.Arg23085Gln | |
| ENST00000342992.10:c.88169G>A (TTN) | ENSP00000343764.6:p.Arg29390Gln | |
| ENST00000359218.9:c.69053G>A (TTN) | ENSP00000352154.5:p.Arg23018Gln | |
| ENST00000460472.6:c.68678G>A (TTN) | ENSP00000434586.1:p.Arg22893Gln | |
| ENST00000589042.5:c.95873G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg31958Gln | |
| ENST00000591111.5:c.90950G>A (TTN) | ENSP00000465570.1:p.Arg30317Gln | |
| ENST00000615779.4:c.90950G>A (TTN) | ENSP00000483597.1:p.Arg30317Gln | |
| NM_001256850.1:c.90950G>A (TTN) | NP_001243779.1:p.Arg30317Gln | |
| NM_001267550.2:c.95873G>A (TTN) MANE Select | NP_001254479.2:p.Arg31958Gln | |
| NM_003319.4:c.68678G>A (TTN) | NP_003310.4:p.Arg22893Gln | |
| NM_133378.4:c.88169G>A (TTN) | NP_596869.4:p.Arg29390Gln | |
| NM_133432.3:c.69053G>A (TTN) | NP_597676.3:p.Arg23018Gln | |
| NM_133437.4:c.69254G>A (TTN) | NP_597681.4:p.Arg23085Gln | |
| NR_038271.1:n.446+20720C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+1995C>T (TTN-AS1) | ||
| XM_011511729.1:c.94970G>A (TTN) | XP_011510031.1:p.Arg31657Gln | |
| XM_011511730.1:c.68864G>A (TTN) | XP_011510032.1:p.Arg22955Gln | |
| XM_011511731.1:c.68723G>A (TTN) | XP_011510033.1:p.Arg22908Gln | |
| XM_017004819.1:c.94766G>A (TTN) | XP_016860308.1:p.Arg31589Gln | |
| XM_017004820.1:c.90164G>A (TTN) | XP_016860309.1:p.Arg30055Gln | |
| XM_017004821.1:c.90161G>A (TTN) | XP_016860310.1:p.Arg30054Gln | |
| XM_017004822.1:c.87203G>A (TTN) | XP_016860311.1:p.Arg29068Gln | |
| XM_017004823.1:c.68819G>A (TTN) | XP_016860312.1:p.Arg22940Gln | |
| XM_024453094.1:c.90314G>A (TTN) | XP_024308862.1:p.Arg30105Gln | |
| XM_024453095.1:c.90311G>A (TTN) | XP_024308863.1:p.Arg30104Gln | |
| XM_024453096.1:c.89744G>A (TTN) | XP_024308864.1:p.Arg29915Gln | |
| XM_024453097.1:c.87086G>A (TTN) | XP_024308865.1:p.Arg29029Gln | |
| XM_024453098.1:c.87005G>A (TTN) | XP_024308866.1:p.Arg29002Gln | |
| XM_024453099.1:c.68768G>A (TTN) | XP_024308867.1:p.Arg22923Gln | |
| XM_024453100.1:c.58622G>A (TTN) | XP_024308868.1:p.Arg19541Gln |