Linked Data
ClinVar Variation Id:
264301
dbSNP Id:
rs886039117
gnomAD v3:
2-178552741-T-G
gnomAD v4:
2-178552741-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178552741T>G , CM000664.2:g.178552741T>G | GRCh38 |
| NC_000002.11:g.179417468T>G , CM000664.1:g.179417468T>G | GRCh37 |
| NC_000002.10:g.179125714T>G | NCBI36 |
| NG_011618.3:g.283062A>C , LRG_391:g.283062A>C | |
| NG_051363.1:g.34915T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.82455A>C (TTN) | ENSP00000343764.6:p.Lys27485Asn | |
| ENST00000342175.11:c.63540A>C (TTN) | ENSP00000340554.6:p.Lys21180Asn | |
| ENST00000359218.10:c.63339A>C (TTN) | ENSP00000352154.5:p.Lys21113Asn | |
| ENST00000342175.10:c.63540A>C (TTN) | ENSP00000340554.6:p.Lys21180Asn | |
| ENST00000342992.10:c.82455A>C (TTN) | ENSP00000343764.6:p.Lys27485Asn | |
| ENST00000359218.9:c.63339A>C (TTN) | ENSP00000352154.5:p.Lys21113Asn | |
| ENST00000460472.6:c.62964A>C (TTN) | ENSP00000434586.1:p.Lys20988Asn | |
| ENST00000589042.5:c.90159A>C (TTN) MANE Select | ENSP00000467141.1:p.Lys30053Asn | |
| ENST00000591111.5:c.85236A>C (TTN) | ENSP00000465570.1:p.Lys28412Asn | |
| ENST00000615779.4:c.85236A>C (TTN) | ENSP00000483597.1:p.Lys28412Asn | |
| NM_001256850.1:c.85236A>C (TTN) | NP_001243779.1:p.Lys28412Asn | |
| NM_001267550.2:c.90159A>C (TTN) MANE Select | NP_001254479.2:p.Lys30053Asn | |
| NM_003319.4:c.62964A>C (TTN) | NP_003310.4:p.Lys20988Asn | |
| NM_133378.4:c.82455A>C (TTN) | NP_596869.4:p.Lys27485Asn | |
| NM_133432.3:c.63339A>C (TTN) | NP_597676.3:p.Lys21113Asn | |
| NM_133437.4:c.63540A>C (TTN) | NP_597681.4:p.Lys21180Asn | |
| NR_038271.1:n.447-18559T>G (TTN-AS1) | ||
| NR_038272.1:n.2043+10380T>G (TTN-AS1) | ||
| XM_011511729.1:c.89256A>C (TTN) | XP_011510031.1:p.Lys29752Asn | |
| XM_011511730.1:c.63150A>C (TTN) | XP_011510032.1:p.Lys21050Asn | |
| XM_011511731.1:c.63009A>C (TTN) | XP_011510033.1:p.Lys21003Asn | |
| XM_017004819.1:c.89052A>C (TTN) | XP_016860308.1:p.Lys29684Asn | |
| XM_017004820.1:c.84450A>C (TTN) | XP_016860309.1:p.Lys28150Asn | |
| XM_017004821.1:c.84447A>C (TTN) | XP_016860310.1:p.Lys28149Asn | |
| XM_017004822.1:c.81489A>C (TTN) | XP_016860311.1:p.Lys27163Asn | |
| XM_017004823.1:c.63105A>C (TTN) | XP_016860312.1:p.Lys21035Asn | |
| XM_024453094.1:c.84600A>C (TTN) | XP_024308862.1:p.Lys28200Asn | |
| XM_024453095.1:c.84597A>C (TTN) | XP_024308863.1:p.Lys28199Asn | |
| XM_024453096.1:c.84030A>C (TTN) | XP_024308864.1:p.Lys28010Asn | |
| XM_024453097.1:c.81372A>C (TTN) | XP_024308865.1:p.Lys27124Asn | |
| XM_024453098.1:c.81291A>C (TTN) | XP_024308866.1:p.Lys27097Asn | |
| XM_024453099.1:c.63054A>C (TTN) | XP_024308867.1:p.Lys21018Asn | |
| XM_024453100.1:c.52908A>C (TTN) | XP_024308868.1:p.Lys17636Asn |