Linked Data
ClinVar Variation Id:
1510359
ClinVar RCV Id:
RCV002011707
dbSNP Id:
rs545715587
gnomAD v3:
5-90763339-C-A
gnomAD v4:
5-90763339-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90763339C>A , CM000667.2:g.90763339C>A | GRCh38 |
| NC_000005.9:g.90059156C>A , CM000667.1:g.90059156C>A | GRCh37 |
| NC_000005.8:g.90094912C>A | NCBI36 |
| NG_007083.1:g.209540C>A | |
| NG_007083.2:g.238996C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12155C>A MANE Select | ENSP00000384582.2:p.Pro4052His | |
| ENST00000425867.3:c.1109C>A | ENSP00000392618.3:p.Pro370His | |
| ENST00000639431.1:c.265+87130C>A | ENSP00000491057.1:n.265+87130C>A | |
| ENST00000640464.1:n.2574C>A | ||
| ENST00000640729.1:n.732C>A | ||
| ENST00000405460.6:c.12155C>A | ENSP00000384582.2:p.Pro4052His | |
| NM_032119.3:c.12155C>A | NP_115495.3:p.Pro4052His | |
| NR_003149.1:n.12168C>A | ||
| XM_011543675.1:c.12152C>A | XP_011541977.1:p.Pro4051His | |
| XM_011543676.1:c.12074C>A | XP_011541978.1:p.Pro4025His | |
| XM_011543677.1:c.9458C>A | XP_011541979.1:p.Pro3153His | |
| XM_011543678.1:c.12155C>A | XP_011541980.1:p.Pro4052His | |
| NM_032119.4:c.12155C>A MANE Select | NP_115495.3:p.Pro4052His | |
| XM_017009963.2:c.12176C>A | XP_016865452.1:p.Pro4059His | |
| XM_017009964.2:c.12173C>A | XP_016865453.1:p.Pro4058His | |
| XM_017009965.1:c.12173C>A | XP_016865454.1:p.Pro4058His | |
| XM_017009966.2:c.12095C>A | XP_016865455.1:p.Pro4032His | |
| XM_017009967.1:c.12080C>A | XP_016865456.1:p.Pro4027His | |
| XM_017009968.2:c.12176C>A | XP_016865457.1:p.Pro4059His | |
| XM_017009969.2:c.12176C>A | XP_016865458.1:p.Pro4059His | |
| XM_017009970.2:c.12176C>A | XP_016865459.1:p.Pro4059His | |
| XM_017009971.2:c.12176C>A | XP_016865460.1:p.Pro4059His | |
| XM_017009972.1:c.5294C>A | XP_016865461.1:p.Pro1765His | |
| XM_017009973.1:c.5273C>A | XP_016865462.1:p.Pro1758His | |
| NR_003149.2:n.12171C>A |