Linked Data
ClinVar Variation Id:
1619812
dbSNP Id:
rs372562222
ExAC:
2:179395208 G / T
gnomAD v2:
2-179395208-G-T
gnomAD v3:
2-178530481-G-T
gnomAD v4:
2-178530481-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530481G>T , CM000664.2:g.178530481G>T | GRCh38 |
| NC_000002.11:g.179395208G>T , CM000664.1:g.179395208G>T | GRCh37 |
| NC_000002.10:g.179103454G>T | NCBI36 |
| NG_011618.3:g.305322C>A , LRG_391:g.305322C>A | |
| NG_051363.1:g.12655G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98430C>A (TTN) | ENSP00000343764.6:p.Ala32810= | |
| ENST00000342175.11:c.79515C>A (TTN) | ENSP00000340554.6:p.Ala26505= | |
| ENST00000359218.10:c.79314C>A (TTN) | ENSP00000352154.5:p.Ala26438= | |
| ENST00000342175.10:c.79515C>A (TTN) | ENSP00000340554.6:p.Ala26505= | |
| ENST00000342992.10:c.98430C>A (TTN) | ENSP00000343764.6:p.Ala32810= | |
| ENST00000359218.9:c.79314C>A (TTN) | ENSP00000352154.5:p.Ala26438= | |
| ENST00000460472.6:c.78939C>A (TTN) | ENSP00000434586.1:p.Ala26313= | |
| ENST00000589042.5:c.106134C>A (TTN) MANE Select | ENSP00000467141.1:p.Ala35378= | |
| ENST00000591111.5:c.101211C>A (TTN) | ENSP00000465570.1:p.Ala33737= | |
| ENST00000615779.4:c.101211C>A (TTN) | ENSP00000483597.1:p.Ala33737= | |
| NM_001256850.1:c.101211C>A (TTN) | NP_001243779.1:p.Ala33737= | |
| NM_001267550.2:c.106134C>A (TTN) MANE Select | NP_001254479.2:p.Ala35378= | |
| NM_003319.4:c.78939C>A (TTN) | NP_003310.4:p.Ala26313= | |
| NM_133378.4:c.98430C>A (TTN) | NP_596869.4:p.Ala32810= | |
| NM_133432.3:c.79314C>A (TTN) | NP_597676.3:p.Ala26438= | |
| NM_133437.4:c.79515C>A (TTN) | NP_597681.4:p.Ala26505= | |
| NR_038271.1:n.446+6845G>T (TTN-AS1) | ||
| NR_038272.1:n.220-5251G>T (TTN-AS1) | ||
| XM_011511729.1:c.105231C>A (TTN) | XP_011510031.1:p.Ala35077= | |
| XM_011511730.1:c.79125C>A (TTN) | XP_011510032.1:p.Ala26375= | |
| XM_011511731.1:c.78984C>A (TTN) | XP_011510033.1:p.Ala26328= | |
| XM_017004819.1:c.105027C>A (TTN) | XP_016860308.1:p.Ala35009= | |
| XM_017004820.1:c.100425C>A (TTN) | XP_016860309.1:p.Ala33475= | |
| XM_017004821.1:c.100422C>A (TTN) | XP_016860310.1:p.Ala33474= | |
| XM_017004822.1:c.97464C>A (TTN) | XP_016860311.1:p.Ala32488= | |
| XM_017004823.1:c.79080C>A (TTN) | XP_016860312.1:p.Ala26360= | |
| XM_024453094.1:c.100575C>A (TTN) | XP_024308862.1:p.Ala33525= | |
| XM_024453095.1:c.100572C>A (TTN) | XP_024308863.1:p.Ala33524= | |
| XM_024453096.1:c.100005C>A (TTN) | XP_024308864.1:p.Ala33335= | |
| XM_024453097.1:c.97347C>A (TTN) | XP_024308865.1:p.Ala32449= | |
| XM_024453098.1:c.97266C>A (TTN) | XP_024308866.1:p.Ala32422= | |
| XM_024453099.1:c.79029C>A (TTN) | XP_024308867.1:p.Ala26343= | |
| XM_024453100.1:c.68883C>A (TTN) | XP_024308868.1:p.Ala22961= |