UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
178198
ClinVar RCV Id:
RCV000154928
RCV000232589
RCV000294934
RCV000298300
RCV000336929
RCV000352280
RCV000392745
RCV000619951
RCV001528604
dbSNP Id:
rs375538420
ExAC:
2:179443924 G / A
gnomAD v2:
2-179443924-G-A
gnomAD v3:
2-178579197-G-A
gnomAD v4:
2-178579197-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178579197G>A , CM000664.2:g.178579197G>A | GRCh38 |
| NC_000002.11:g.179443924G>A , CM000664.1:g.179443924G>A | GRCh37 |
| NC_000002.10:g.179152170G>A | NCBI36 |
| NG_011618.3:g.256606C>T , LRG_391:g.256606C>T | |
| NG_051363.1:g.61371G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.60129C>T (TTN) | ENSP00000343764.6:p.Tyr20043= | |
| ENST00000342175.11:c.41214C>T (TTN) | ENSP00000340554.6:p.Tyr13738= | |
| ENST00000359218.10:c.41013C>T (TTN) | ENSP00000352154.5:p.Tyr13671= | |
| ENST00000342175.10:c.41214C>T (TTN) | ENSP00000340554.6:p.Tyr13738= | |
| ENST00000342992.10:c.60129C>T (TTN) | ENSP00000343764.6:p.Tyr20043= | |
| ENST00000359218.9:c.41013C>T (TTN) | ENSP00000352154.5:p.Tyr13671= | |
| ENST00000460472.6:c.40638C>T (TTN) | ENSP00000434586.1:p.Tyr13546= | |
| ENST00000589042.5:c.67833C>T (TTN) MANE Select | ENSP00000467141.1:p.Tyr22611= | |
| ENST00000591111.5:c.62910C>T (TTN) | ENSP00000465570.1:p.Tyr20970= | |
| ENST00000615779.4:c.62910C>T (TTN) | ENSP00000483597.1:p.Tyr20970= | |
| NM_001256850.1:c.62910C>T (TTN) | NP_001243779.1:p.Tyr20970= | |
| NM_001267550.2:c.67833C>T (TTN) MANE Select | NP_001254479.2:p.Tyr22611= | |
| NM_003319.4:c.40638C>T (TTN) | NP_003310.4:p.Tyr13546= | |
| NM_133378.4:c.60129C>T (TTN) | NP_596869.4:p.Tyr20043= | |
| NM_133432.3:c.41013C>T (TTN) | NP_597676.3:p.Tyr13671= | |
| NM_133437.4:c.41214C>T (TTN) | NP_597681.4:p.Tyr13738= | |
| NR_038271.1:n.596+7748G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-3375G>A (TTN-AS1) | ||
| XM_011511729.1:c.66930C>T (TTN) | XP_011510031.1:p.Tyr22310= | |
| XM_011511730.1:c.40824C>T (TTN) | XP_011510032.1:p.Tyr13608= | |
| XM_011511731.1:c.40683C>T (TTN) | XP_011510033.1:p.Tyr13561= | |
| XM_017004819.1:c.66726C>T (TTN) | XP_016860308.1:p.Tyr22242= | |
| XM_017004820.1:c.62124C>T (TTN) | XP_016860309.1:p.Tyr20708= | |
| XM_017004821.1:c.62121C>T (TTN) | XP_016860310.1:p.Tyr20707= | |
| XM_017004822.1:c.59163C>T (TTN) | XP_016860311.1:p.Tyr19721= | |
| XM_017004823.1:c.40779C>T (TTN) | XP_016860312.1:p.Tyr13593= | |
| XM_024453094.1:c.62274C>T (TTN) | XP_024308862.1:p.Tyr20758= | |
| XM_024453095.1:c.62271C>T (TTN) | XP_024308863.1:p.Tyr20757= | |
| XM_024453096.1:c.61704C>T (TTN) | XP_024308864.1:p.Tyr20568= | |
| XM_024453097.1:c.59046C>T (TTN) | XP_024308865.1:p.Tyr19682= | |
| XM_024453098.1:c.58965C>T (TTN) | XP_024308866.1:p.Tyr19655= | |
| XM_024453099.1:c.40728C>T (TTN) | XP_024308867.1:p.Tyr13576= | |
| XM_024453100.1:c.30582C>T (TTN) | XP_024308868.1:p.Tyr10194= |