Linked Data
ClinVar Variation Id:
498997
dbSNP Id:
rs192167542
ExAC:
2:179416508 T / C
gnomAD v2:
2-179416508-T-C
gnomAD v3:
2-178551781-T-C
gnomAD v4:
2-178551781-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178551781T>C , CM000664.2:g.178551781T>C | GRCh38 |
| NC_000002.11:g.179416508T>C , CM000664.1:g.179416508T>C | GRCh37 |
| NC_000002.10:g.179124754T>C | NCBI36 |
| NG_011618.3:g.284022A>G , LRG_391:g.284022A>G | |
| NG_051363.1:g.33955T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83415A>G (TTN) | ENSP00000343764.6:p.Lys27805= | |
| ENST00000342175.11:c.64500A>G (TTN) | ENSP00000340554.6:p.Lys21500= | |
| ENST00000359218.10:c.64299A>G (TTN) | ENSP00000352154.5:p.Lys21433= | |
| ENST00000342175.10:c.64500A>G (TTN) | ENSP00000340554.6:p.Lys21500= | |
| ENST00000342992.10:c.83415A>G (TTN) | ENSP00000343764.6:p.Lys27805= | |
| ENST00000359218.9:c.64299A>G (TTN) | ENSP00000352154.5:p.Lys21433= | |
| ENST00000460472.6:c.63924A>G (TTN) | ENSP00000434586.1:p.Lys21308= | |
| ENST00000589042.5:c.91119A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys30373= | |
| ENST00000591111.5:c.86196A>G (TTN) | ENSP00000465570.1:p.Lys28732= | |
| ENST00000615779.4:c.86196A>G (TTN) | ENSP00000483597.1:p.Lys28732= | |
| NM_001256850.1:c.86196A>G (TTN) | NP_001243779.1:p.Lys28732= | |
| NM_001267550.2:c.91119A>G (TTN) MANE Select | NP_001254479.2:p.Lys30373= | |
| NM_003319.4:c.63924A>G (TTN) | NP_003310.4:p.Lys21308= | |
| NM_133378.4:c.83415A>G (TTN) | NP_596869.4:p.Lys27805= | |
| NM_133432.3:c.64299A>G (TTN) | NP_597676.3:p.Lys21433= | |
| NM_133437.4:c.64500A>G (TTN) | NP_597681.4:p.Lys21500= | |
| NR_038271.1:n.447-19519T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+9420T>C (TTN-AS1) | ||
| XM_011511729.1:c.90216A>G (TTN) | XP_011510031.1:p.Lys30072= | |
| XM_011511730.1:c.64110A>G (TTN) | XP_011510032.1:p.Lys21370= | |
| XM_011511731.1:c.63969A>G (TTN) | XP_011510033.1:p.Lys21323= | |
| XM_017004819.1:c.90012A>G (TTN) | XP_016860308.1:p.Lys30004= | |
| XM_017004820.1:c.85410A>G (TTN) | XP_016860309.1:p.Lys28470= | |
| XM_017004821.1:c.85407A>G (TTN) | XP_016860310.1:p.Lys28469= | |
| XM_017004822.1:c.82449A>G (TTN) | XP_016860311.1:p.Lys27483= | |
| XM_017004823.1:c.64065A>G (TTN) | XP_016860312.1:p.Lys21355= | |
| XM_024453094.1:c.85560A>G (TTN) | XP_024308862.1:p.Lys28520= | |
| XM_024453095.1:c.85557A>G (TTN) | XP_024308863.1:p.Lys28519= | |
| XM_024453096.1:c.84990A>G (TTN) | XP_024308864.1:p.Lys28330= | |
| XM_024453097.1:c.82332A>G (TTN) | XP_024308865.1:p.Lys27444= | |
| XM_024453098.1:c.82251A>G (TTN) | XP_024308866.1:p.Lys27417= | |
| XM_024453099.1:c.64014A>G (TTN) | XP_024308867.1:p.Lys21338= | |
| XM_024453100.1:c.53868A>G (TTN) | XP_024308868.1:p.Lys17956= |