Linked Data
ClinVar Variation Id:
466768
dbSNP Id:
rs1053387515
gnomAD v2:
2-179392289-C-A
gnomAD v3:
2-178527562-C-A
gnomAD v4:
2-178527562-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527562C>A , CM000664.2:g.178527562C>A | GRCh38 |
| NC_000002.11:g.179392289C>A , CM000664.1:g.179392289C>A | GRCh37 |
| NC_000002.10:g.179100535C>A | NCBI36 |
| NG_011618.3:g.308241G>T , LRG_391:g.308241G>T | |
| NG_051363.1:g.9736C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99860G>T (TTN) | ENSP00000343764.6:p.Ser33287Ile | |
| ENST00000342175.11:c.80945G>T (TTN) | ENSP00000340554.6:p.Ser26982Ile | |
| ENST00000359218.10:c.80744G>T (TTN) | ENSP00000352154.5:p.Ser26915Ile | |
| ENST00000342175.10:c.80945G>T (TTN) | ENSP00000340554.6:p.Ser26982Ile | |
| ENST00000342992.10:c.99860G>T (TTN) | ENSP00000343764.6:p.Ser33287Ile | |
| ENST00000359218.9:c.80744G>T (TTN) | ENSP00000352154.5:p.Ser26915Ile | |
| ENST00000460472.6:c.80369G>T (TTN) | ENSP00000434586.1:p.Ser26790Ile | |
| ENST00000589042.5:c.107564G>T (TTN) MANE Select | ENSP00000467141.1:p.Ser35855Ile | |
| ENST00000591111.5:c.102641G>T (TTN) | ENSP00000465570.1:p.Ser34214Ile | |
| ENST00000615779.4:c.102641G>T (TTN) | ENSP00000483597.1:p.Ser34214Ile | |
| NM_001256850.1:c.102641G>T (TTN) | NP_001243779.1:p.Ser34214Ile | |
| NM_001267550.2:c.107564G>T (TTN) MANE Select | NP_001254479.2:p.Ser35855Ile | |
| NM_003319.4:c.80369G>T (TTN) | NP_003310.4:p.Ser26790Ile | |
| NM_133378.4:c.99860G>T (TTN) | NP_596869.4:p.Ser33287Ile | |
| NM_133432.3:c.80744G>T (TTN) | NP_597676.3:p.Ser26915Ile | |
| NM_133437.4:c.80945G>T (TTN) | NP_597681.4:p.Ser26982Ile | |
| NR_038271.1:n.446+3926C>A (TTN-AS1) | ||
| NR_038272.1:n.219+3926C>A (TTN-AS1) | ||
| XM_011511729.1:c.106661G>T (TTN) | XP_011510031.1:p.Ser35554Ile | |
| XM_011511730.1:c.80555G>T (TTN) | XP_011510032.1:p.Ser26852Ile | |
| XM_011511731.1:c.80414G>T (TTN) | XP_011510033.1:p.Ser26805Ile | |
| XM_017004819.1:c.106457G>T (TTN) | XP_016860308.1:p.Ser35486Ile | |
| XM_017004820.1:c.101855G>T (TTN) | XP_016860309.1:p.Ser33952Ile | |
| XM_017004821.1:c.101852G>T (TTN) | XP_016860310.1:p.Ser33951Ile | |
| XM_017004822.1:c.98894G>T (TTN) | XP_016860311.1:p.Ser32965Ile | |
| XM_017004823.1:c.80510G>T (TTN) | XP_016860312.1:p.Ser26837Ile | |
| XM_024453094.1:c.102005G>T (TTN) | XP_024308862.1:p.Ser34002Ile | |
| XM_024453095.1:c.102002G>T (TTN) | XP_024308863.1:p.Ser34001Ile | |
| XM_024453096.1:c.101435G>T (TTN) | XP_024308864.1:p.Ser33812Ile | |
| XM_024453097.1:c.98777G>T (TTN) | XP_024308865.1:p.Ser32926Ile | |
| XM_024453098.1:c.98696G>T (TTN) | XP_024308866.1:p.Ser32899Ile | |
| XM_024453099.1:c.80459G>T (TTN) | XP_024308867.1:p.Ser26820Ile | |
| XM_024453100.1:c.70313G>T (TTN) | XP_024308868.1:p.Ser23438Ile |