Linked Data
ClinVar Variation Id:
202914
dbSNP Id:
rs72648215
ExAC:
2:179428105 G / T
gnomAD v2:
2-179428105-G-T
gnomAD v3:
2-178563378-G-T
gnomAD v4:
2-178563378-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178563378G>T , CM000664.2:g.178563378G>T | GRCh38 |
| NC_000002.11:g.179428105G>T , CM000664.1:g.179428105G>T | GRCh37 |
| NC_000002.10:g.179136351G>T | NCBI36 |
| NG_011618.3:g.272425C>A , LRG_391:g.272425C>A | |
| NG_051363.1:g.45552G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75050C>A (TTN) | ENSP00000343764.6:p.Ser25017Tyr | |
| ENST00000342175.11:c.56135C>A (TTN) | ENSP00000340554.6:p.Ser18712Tyr | |
| ENST00000359218.10:c.55934C>A (TTN) | ENSP00000352154.5:p.Ser18645Tyr | |
| ENST00000342175.10:c.56135C>A (TTN) | ENSP00000340554.6:p.Ser18712Tyr | |
| ENST00000342992.10:c.75050C>A (TTN) | ENSP00000343764.6:p.Ser25017Tyr | |
| ENST00000359218.9:c.55934C>A (TTN) | ENSP00000352154.5:p.Ser18645Tyr | |
| ENST00000460472.6:c.55559C>A (TTN) | ENSP00000434586.1:p.Ser18520Tyr | |
| ENST00000589042.5:c.82754C>A (TTN) MANE Select | ENSP00000467141.1:p.Ser27585Tyr | |
| ENST00000591111.5:c.77831C>A (TTN) | ENSP00000465570.1:p.Ser25944Tyr | |
| ENST00000615779.4:c.77831C>A (TTN) | ENSP00000483597.1:p.Ser25944Tyr | |
| NM_001256850.1:c.77831C>A (TTN) | NP_001243779.1:p.Ser25944Tyr | |
| NM_001267550.2:c.82754C>A (TTN) MANE Select | NP_001254479.2:p.Ser27585Tyr | |
| NM_003319.4:c.55559C>A (TTN) | NP_003310.4:p.Ser18520Tyr | |
| NM_133378.4:c.75050C>A (TTN) | NP_596869.4:p.Ser25017Tyr | |
| NM_133432.3:c.55934C>A (TTN) | NP_597676.3:p.Ser18645Tyr | |
| NM_133437.4:c.56135C>A (TTN) | NP_597681.4:p.Ser18712Tyr | |
| NR_038271.1:n.447-7922G>T (TTN-AS1) | ||
| NR_038272.1:n.2044-19194G>T (TTN-AS1) | ||
| XM_011511729.1:c.81851C>A (TTN) | XP_011510031.1:p.Ser27284Tyr | |
| XM_011511730.1:c.55745C>A (TTN) | XP_011510032.1:p.Ser18582Tyr | |
| XM_011511731.1:c.55604C>A (TTN) | XP_011510033.1:p.Ser18535Tyr | |
| XM_017004819.1:c.81647C>A (TTN) | XP_016860308.1:p.Ser27216Tyr | |
| XM_017004820.1:c.77045C>A (TTN) | XP_016860309.1:p.Ser25682Tyr | |
| XM_017004821.1:c.77042C>A (TTN) | XP_016860310.1:p.Ser25681Tyr | |
| XM_017004822.1:c.74084C>A (TTN) | XP_016860311.1:p.Ser24695Tyr | |
| XM_017004823.1:c.55700C>A (TTN) | XP_016860312.1:p.Ser18567Tyr | |
| XM_024453094.1:c.77195C>A (TTN) | XP_024308862.1:p.Ser25732Tyr | |
| XM_024453095.1:c.77192C>A (TTN) | XP_024308863.1:p.Ser25731Tyr | |
| XM_024453096.1:c.76625C>A (TTN) | XP_024308864.1:p.Ser25542Tyr | |
| XM_024453097.1:c.73967C>A (TTN) | XP_024308865.1:p.Ser24656Tyr | |
| XM_024453098.1:c.73886C>A (TTN) | XP_024308866.1:p.Ser24629Tyr | |
| XM_024453099.1:c.55649C>A (TTN) | XP_024308867.1:p.Ser18550Tyr | |
| XM_024453100.1:c.45503C>A (TTN) | XP_024308868.1:p.Ser15168Tyr |