Linked Data
ClinVar Variation Id:
500609
dbSNP Id:
rs757252494
gnomAD v2:
2-179433693-A-G
gnomAD v3:
2-178568966-A-G
gnomAD v4:
2-178568966-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178568966A>G , CM000664.2:g.178568966A>G | GRCh38 |
| NC_000002.11:g.179433693A>G , CM000664.1:g.179433693A>G | GRCh37 |
| NC_000002.10:g.179141939A>G | NCBI36 |
| NG_011618.3:g.266837T>C , LRG_391:g.266837T>C | |
| NG_051363.1:g.51140A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.69462T>C (TTN) | ENSP00000343764.6:p.Pro23154= | |
| ENST00000342175.11:c.50547T>C (TTN) | ENSP00000340554.6:p.Pro16849= | |
| ENST00000359218.10:c.50346T>C (TTN) | ENSP00000352154.5:p.Pro16782= | |
| ENST00000342175.10:c.50547T>C (TTN) | ENSP00000340554.6:p.Pro16849= | |
| ENST00000342992.10:c.69462T>C (TTN) | ENSP00000343764.6:p.Pro23154= | |
| ENST00000359218.9:c.50346T>C (TTN) | ENSP00000352154.5:p.Pro16782= | |
| ENST00000460472.6:c.49971T>C (TTN) | ENSP00000434586.1:p.Pro16657= | |
| ENST00000589042.5:c.77166T>C (TTN) MANE Select | ENSP00000467141.1:p.Pro25722= | |
| ENST00000591111.5:c.72243T>C (TTN) | ENSP00000465570.1:p.Pro24081= | |
| ENST00000615779.4:c.72243T>C (TTN) | ENSP00000483597.1:p.Pro24081= | |
| NM_001256850.1:c.72243T>C (TTN) | NP_001243779.1:p.Pro24081= | |
| NM_001267550.2:c.77166T>C (TTN) MANE Select | NP_001254479.2:p.Pro25722= | |
| NM_003319.4:c.49971T>C (TTN) | NP_003310.4:p.Pro16657= | |
| NM_133378.4:c.69462T>C (TTN) | NP_596869.4:p.Pro23154= | |
| NM_133432.3:c.50346T>C (TTN) | NP_597676.3:p.Pro16782= | |
| NM_133437.4:c.50547T>C (TTN) | NP_597681.4:p.Pro16849= | |
| NR_038271.1:n.447-2334A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-13606A>G (TTN-AS1) | ||
| XM_011511729.1:c.76263T>C (TTN) | XP_011510031.1:p.Pro25421= | |
| XM_011511730.1:c.50157T>C (TTN) | XP_011510032.1:p.Pro16719= | |
| XM_011511731.1:c.50016T>C (TTN) | XP_011510033.1:p.Pro16672= | |
| XM_017004819.1:c.76059T>C (TTN) | XP_016860308.1:p.Pro25353= | |
| XM_017004820.1:c.71457T>C (TTN) | XP_016860309.1:p.Pro23819= | |
| XM_017004821.1:c.71454T>C (TTN) | XP_016860310.1:p.Pro23818= | |
| XM_017004822.1:c.68496T>C (TTN) | XP_016860311.1:p.Pro22832= | |
| XM_017004823.1:c.50112T>C (TTN) | XP_016860312.1:p.Pro16704= | |
| XM_024453094.1:c.71607T>C (TTN) | XP_024308862.1:p.Pro23869= | |
| XM_024453095.1:c.71604T>C (TTN) | XP_024308863.1:p.Pro23868= | |
| XM_024453096.1:c.71037T>C (TTN) | XP_024308864.1:p.Pro23679= | |
| XM_024453097.1:c.68379T>C (TTN) | XP_024308865.1:p.Pro22793= | |
| XM_024453098.1:c.68298T>C (TTN) | XP_024308866.1:p.Pro22766= | |
| XM_024453099.1:c.50061T>C (TTN) | XP_024308867.1:p.Pro16687= | |
| XM_024453100.1:c.39915T>C (TTN) | XP_024308868.1:p.Pro13305= |