WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
332706
ClinVar RCV Id:
RCV000286171
RCV000291846
RCV000321215
RCV000378182
RCV000407408
RCV000431706
RCV000726780
dbSNP Id:
rs745708104
ExAC:
2:179402367 G / A
gnomAD v2:
2-179402367-G-A
gnomAD v3:
2-178537640-G-A
gnomAD v4:
2-178537640-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537640G>A , CM000664.2:g.178537640G>A | GRCh38 |
| NC_000002.11:g.179402367G>A , CM000664.1:g.179402367G>A | GRCh37 |
| NC_000002.10:g.179110613G>A | NCBI36 |
| NG_011618.3:g.298163C>T , LRG_391:g.298163C>T | |
| NG_051363.1:g.19814G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.91863C>T (TTN) | ENSP00000343764.6:p.Leu30621= | |
| ENST00000342175.11:c.72948C>T (TTN) | ENSP00000340554.6:p.Leu24316= | |
| ENST00000359218.10:c.72747C>T (TTN) | ENSP00000352154.5:p.Leu24249= | |
| ENST00000342175.10:c.72948C>T (TTN) | ENSP00000340554.6:p.Leu24316= | |
| ENST00000342992.10:c.91863C>T (TTN) | ENSP00000343764.6:p.Leu30621= | |
| ENST00000359218.9:c.72747C>T (TTN) | ENSP00000352154.5:p.Leu24249= | |
| ENST00000460472.6:c.72372C>T (TTN) | ENSP00000434586.1:p.Leu24124= | |
| ENST00000589042.5:c.99567C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu33189= | |
| ENST00000591111.5:c.94644C>T (TTN) | ENSP00000465570.1:p.Leu31548= | |
| ENST00000615779.4:c.94644C>T (TTN) | ENSP00000483597.1:p.Leu31548= | |
| NM_001256850.1:c.94644C>T (TTN) | NP_001243779.1:p.Leu31548= | |
| NM_001267550.2:c.99567C>T (TTN) MANE Select | NP_001254479.2:p.Leu33189= | |
| NM_003319.4:c.72372C>T (TTN) | NP_003310.4:p.Leu24124= | |
| NM_133378.4:c.91863C>T (TTN) | NP_596869.4:p.Leu30621= | |
| NM_133432.3:c.72747C>T (TTN) | NP_597676.3:p.Leu24249= | |
| NM_133437.4:c.72948C>T (TTN) | NP_597681.4:p.Leu24316= | |
| NR_038271.1:n.446+14004G>A (TTN-AS1) | ||
| NR_038272.1:n.596G>A (TTN-AS1) | ||
| XM_011511729.1:c.98664C>T (TTN) | XP_011510031.1:p.Leu32888= | |
| XM_011511730.1:c.72558C>T (TTN) | XP_011510032.1:p.Leu24186= | |
| XM_011511731.1:c.72417C>T (TTN) | XP_011510033.1:p.Leu24139= | |
| XM_017004819.1:c.98460C>T (TTN) | XP_016860308.1:p.Leu32820= | |
| XM_017004820.1:c.93858C>T (TTN) | XP_016860309.1:p.Leu31286= | |
| XM_017004821.1:c.93855C>T (TTN) | XP_016860310.1:p.Leu31285= | |
| XM_017004822.1:c.90897C>T (TTN) | XP_016860311.1:p.Leu30299= | |
| XM_017004823.1:c.72513C>T (TTN) | XP_016860312.1:p.Leu24171= | |
| XM_024453094.1:c.94008C>T (TTN) | XP_024308862.1:p.Leu31336= | |
| XM_024453095.1:c.94005C>T (TTN) | XP_024308863.1:p.Leu31335= | |
| XM_024453096.1:c.93438C>T (TTN) | XP_024308864.1:p.Leu31146= | |
| XM_024453097.1:c.90780C>T (TTN) | XP_024308865.1:p.Leu30260= | |
| XM_024453098.1:c.90699C>T (TTN) | XP_024308866.1:p.Leu30233= | |
| XM_024453099.1:c.72462C>T (TTN) | XP_024308867.1:p.Leu24154= | |
| XM_024453100.1:c.62316C>T (TTN) | XP_024308868.1:p.Leu20772= |