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:
415835
ClinVar RCV Id:
RCV002264700
dbSNP Id:
rs1060504668
gnomAD v4:
21-34834474-G-A
ERepo:
CA16616523/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34834474G>A , CM000683.2:g.34834474G>A | GRCh38 |
| NC_000021.8:g.36206771G>A , CM000683.1:g.36206771G>A | GRCh37 |
| NC_000021.7:g.35128641G>A | NCBI36 |
| NG_011402.2:g.1155238C>T , LRG_482:g.1155238C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000675419.1:c.741C>T MANE Select | ENSP00000501943.1:p.Pro247= | |
| ENST00000300305.7:c.741C>T | ENSP00000300305.3:p.Pro247= | |
| ENST00000344691.8:c.660C>T | ENSP00000340690.4:p.Pro220= | |
| ENST00000358356.9:c.660C>T | ENSP00000351123.5:p.Pro220= | |
| ENST00000399237.6:c.705C>T | ENSP00000382182.2:p.Pro235= | |
| ENST00000399240.5:c.532+25000C>T | ENSP00000382184.1:n.532+25000C>T | |
| ENST00000437180.5:c.741C>T | ENSP00000409227.1:p.Pro247= | |
| ENST00000469087.1:n.277C>T | ||
| ENST00000482318.5:c.*331C>T | ENSP00000477067.1:n.*331C>T | |
| NM_001001890.2:c.660C>T | NP_001001890.1:p.Pro220= | |
| NM_001122607.1:c.660C>T | NP_001116079.1:p.Pro220= | |
| NM_001754.4:c.741C>T , LRG_482t1:c.741C>T | NP_001745.2:p.Pro247= | |
| XM_005261068.3:c.705C>T | XP_005261125.1:p.Pro235= | |
| XM_005261069.3:c.613+25000C>T | XP_005261126.1:n.613+25000C>T | |
| XM_011529766.1:c.741C>T | XP_011528068.1:p.Pro247= | |
| XM_011529767.1:c.702C>T | XP_011528069.1:p.Pro234= | |
| XM_011529768.1:c.574+25000C>T | XP_011528070.1:n.574+25000C>T | |
| XM_011529770.1:c.741C>T | XP_011528072.1:p.Pro247= | |
| XR_937576.1:n.920C>T | ||
| XM_005261069.4:c.613+25000C>T | XP_005261126.1:n.613+25000C>T | |
| XM_011529766.2:c.741C>T | XP_011528068.1:p.Pro247= | |
| XM_011529767.2:c.702C>T | XP_011528069.1:p.Pro234= | |
| XM_011529768.2:c.574+25000C>T | XP_011528070.1:n.574+25000C>T | |
| XM_011529770.2:c.741C>T | XP_011528072.1:p.Pro247= | |
| XM_017028487.1:c.588C>T | XP_016883976.1:p.Pro196= | |
| XR_937576.2:n.967C>T | ||
| NM_001001890.3:c.660C>T | NP_001001890.1:p.Pro220= | |
| NM_001122607.2:c.660C>T | NP_001116079.1:p.Pro220= | |
| NM_001754.5:c.741C>T MANE Select | NP_001745.2:p.Pro247= |