Linked Data
ClinVar Variation Id:
2437453
ClinVar RCV Id:
RCV003142956
dbSNP Id:
rs1263522750
gnomAD v3:
2-178546779-T-C
gnomAD v4:
2-178546779-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546779T>C , CM000664.2:g.178546779T>C | GRCh38 |
| NC_000002.11:g.179411506T>C , CM000664.1:g.179411506T>C | GRCh37 |
| NC_000002.10:g.179119752T>C | NCBI36 |
| NG_011618.3:g.289024A>G , LRG_391:g.289024A>G | |
| NG_051363.1:g.28953T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86945A>G (TTN) | ENSP00000343764.6:p.Glu28982Gly | |
| ENST00000342175.11:c.68030A>G (TTN) | ENSP00000340554.6:p.Glu22677Gly | |
| ENST00000359218.10:c.67829A>G (TTN) | ENSP00000352154.5:p.Glu22610Gly | |
| ENST00000342175.10:c.68030A>G (TTN) | ENSP00000340554.6:p.Glu22677Gly | |
| ENST00000342992.10:c.86945A>G (TTN) | ENSP00000343764.6:p.Glu28982Gly | |
| ENST00000359218.9:c.67829A>G (TTN) | ENSP00000352154.5:p.Glu22610Gly | |
| ENST00000460472.6:c.67454A>G (TTN) | ENSP00000434586.1:p.Glu22485Gly | |
| ENST00000589042.5:c.94649A>G (TTN) MANE Select | ENSP00000467141.1:p.Glu31550Gly | |
| ENST00000591111.5:c.89726A>G (TTN) | ENSP00000465570.1:p.Glu29909Gly | |
| ENST00000615779.4:c.89726A>G (TTN) | ENSP00000483597.1:p.Glu29909Gly | |
| NM_001256850.1:c.89726A>G (TTN) | NP_001243779.1:p.Glu29909Gly | |
| NM_001267550.2:c.94649A>G (TTN) MANE Select | NP_001254479.2:p.Glu31550Gly | |
| NM_003319.4:c.67454A>G (TTN) | NP_003310.4:p.Glu22485Gly | |
| NM_133378.4:c.86945A>G (TTN) | NP_596869.4:p.Glu28982Gly | |
| NM_133432.3:c.67829A>G (TTN) | NP_597676.3:p.Glu22610Gly | |
| NM_133437.4:c.68030A>G (TTN) | NP_597681.4:p.Glu22677Gly | |
| NR_038271.1:n.446+23143T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+4418T>C (TTN-AS1) | ||
| XM_011511729.1:c.93746A>G (TTN) | XP_011510031.1:p.Glu31249Gly | |
| XM_011511730.1:c.67640A>G (TTN) | XP_011510032.1:p.Glu22547Gly | |
| XM_011511731.1:c.67499A>G (TTN) | XP_011510033.1:p.Glu22500Gly | |
| XM_017004819.1:c.93542A>G (TTN) | XP_016860308.1:p.Glu31181Gly | |
| XM_017004820.1:c.88940A>G (TTN) | XP_016860309.1:p.Glu29647Gly | |
| XM_017004821.1:c.88937A>G (TTN) | XP_016860310.1:p.Glu29646Gly | |
| XM_017004822.1:c.85979A>G (TTN) | XP_016860311.1:p.Glu28660Gly | |
| XM_017004823.1:c.67595A>G (TTN) | XP_016860312.1:p.Glu22532Gly | |
| XM_024453094.1:c.89090A>G (TTN) | XP_024308862.1:p.Glu29697Gly | |
| XM_024453095.1:c.89087A>G (TTN) | XP_024308863.1:p.Glu29696Gly | |
| XM_024453096.1:c.88520A>G (TTN) | XP_024308864.1:p.Glu29507Gly | |
| XM_024453097.1:c.85862A>G (TTN) | XP_024308865.1:p.Glu28621Gly | |
| XM_024453098.1:c.85781A>G (TTN) | XP_024308866.1:p.Glu28594Gly | |
| XM_024453099.1:c.67544A>G (TTN) | XP_024308867.1:p.Glu22515Gly | |
| XM_024453100.1:c.57398A>G (TTN) | XP_024308868.1:p.Glu19133Gly |