Linked Data
ClinVar Variation Id:
2437830
ClinVar RCV Id:
RCV003136996
dbSNP Id:
rs1415254742
gnomAD v2:
2-179416572-C-T
gnomAD v4:
2-178551845-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178551845C>T , CM000664.2:g.178551845C>T | GRCh38 |
| NC_000002.11:g.179416572C>T , CM000664.1:g.179416572C>T | GRCh37 |
| NC_000002.10:g.179124818C>T | NCBI36 |
| NG_011618.3:g.283958G>A , LRG_391:g.283958G>A | |
| NG_051363.1:g.34019C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.83351G>A (TTN) | ENSP00000343764.6:p.Gly27784Asp | |
| ENST00000342175.11:c.64436G>A (TTN) | ENSP00000340554.6:p.Gly21479Asp | |
| ENST00000359218.10:c.64235G>A (TTN) | ENSP00000352154.5:p.Gly21412Asp | |
| ENST00000342175.10:c.64436G>A (TTN) | ENSP00000340554.6:p.Gly21479Asp | |
| ENST00000342992.10:c.83351G>A (TTN) | ENSP00000343764.6:p.Gly27784Asp | |
| ENST00000359218.9:c.64235G>A (TTN) | ENSP00000352154.5:p.Gly21412Asp | |
| ENST00000460472.6:c.63860G>A (TTN) | ENSP00000434586.1:p.Gly21287Asp | |
| ENST00000589042.5:c.91055G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly30352Asp | |
| ENST00000591111.5:c.86132G>A (TTN) | ENSP00000465570.1:p.Gly28711Asp | |
| ENST00000615779.4:c.86132G>A (TTN) | ENSP00000483597.1:p.Gly28711Asp | |
| NM_001256850.1:c.86132G>A (TTN) | NP_001243779.1:p.Gly28711Asp | |
| NM_001267550.2:c.91055G>A (TTN) MANE Select | NP_001254479.2:p.Gly30352Asp | |
| NM_003319.4:c.63860G>A (TTN) | NP_003310.4:p.Gly21287Asp | |
| NM_133378.4:c.83351G>A (TTN) | NP_596869.4:p.Gly27784Asp | |
| NM_133432.3:c.64235G>A (TTN) | NP_597676.3:p.Gly21412Asp | |
| NM_133437.4:c.64436G>A (TTN) | NP_597681.4:p.Gly21479Asp | |
| NR_038271.1:n.447-19455C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+9484C>T (TTN-AS1) | ||
| XM_011511729.1:c.90152G>A (TTN) | XP_011510031.1:p.Gly30051Asp | |
| XM_011511730.1:c.64046G>A (TTN) | XP_011510032.1:p.Gly21349Asp | |
| XM_011511731.1:c.63905G>A (TTN) | XP_011510033.1:p.Gly21302Asp | |
| XM_017004819.1:c.89948G>A (TTN) | XP_016860308.1:p.Gly29983Asp | |
| XM_017004820.1:c.85346G>A (TTN) | XP_016860309.1:p.Gly28449Asp | |
| XM_017004821.1:c.85343G>A (TTN) | XP_016860310.1:p.Gly28448Asp | |
| XM_017004822.1:c.82385G>A (TTN) | XP_016860311.1:p.Gly27462Asp | |
| XM_017004823.1:c.64001G>A (TTN) | XP_016860312.1:p.Gly21334Asp | |
| XM_024453094.1:c.85496G>A (TTN) | XP_024308862.1:p.Gly28499Asp | |
| XM_024453095.1:c.85493G>A (TTN) | XP_024308863.1:p.Gly28498Asp | |
| XM_024453096.1:c.84926G>A (TTN) | XP_024308864.1:p.Gly28309Asp | |
| XM_024453097.1:c.82268G>A (TTN) | XP_024308865.1:p.Gly27423Asp | |
| XM_024453098.1:c.82187G>A (TTN) | XP_024308866.1:p.Gly27396Asp | |
| XM_024453099.1:c.63950G>A (TTN) | XP_024308867.1:p.Gly21317Asp | |
| XM_024453100.1:c.53804G>A (TTN) | XP_024308868.1:p.Gly17935Asp |