Linked Data
ClinVar Variation Id:
2781152
ClinVar RCV Id:
RCV003659821
dbSNP Id:
rs1253939978
gnomAD v3:
5-90763346-A-G
gnomAD v4:
5-90763346-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90763346A>G , CM000667.2:g.90763346A>G | GRCh38 |
| NC_000005.9:g.90059163A>G , CM000667.1:g.90059163A>G | GRCh37 |
| NC_000005.8:g.90094919A>G | NCBI36 |
| NG_007083.1:g.209547A>G | |
| NG_007083.2:g.239003A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12162A>G MANE Select | ENSP00000384582.2:p.Ser4054= | |
| ENST00000425867.3:c.1116A>G | ENSP00000392618.3:p.Ser372= | |
| ENST00000639431.1:c.265+87137A>G | ENSP00000491057.1:n.265+87137A>G | |
| ENST00000640464.1:n.2581A>G | ||
| ENST00000640729.1:n.739A>G | ||
| ENST00000405460.6:c.12162A>G | ENSP00000384582.2:p.Ser4054= | |
| NM_032119.3:c.12162A>G | NP_115495.3:p.Ser4054= | |
| NR_003149.1:n.12175A>G | ||
| XM_011543675.1:c.12159A>G | XP_011541977.1:p.Ser4053= | |
| XM_011543676.1:c.12081A>G | XP_011541978.1:p.Ser4027= | |
| XM_011543677.1:c.9465A>G | XP_011541979.1:p.Ser3155= | |
| XM_011543678.1:c.12162A>G | XP_011541980.1:p.Ser4054= | |
| NM_032119.4:c.12162A>G MANE Select | NP_115495.3:p.Ser4054= | |
| XM_017009963.2:c.12183A>G | XP_016865452.1:p.Ser4061= | |
| XM_017009964.2:c.12180A>G | XP_016865453.1:p.Ser4060= | |
| XM_017009965.1:c.12180A>G | XP_016865454.1:p.Ser4060= | |
| XM_017009966.2:c.12102A>G | XP_016865455.1:p.Ser4034= | |
| XM_017009967.1:c.12087A>G | XP_016865456.1:p.Ser4029= | |
| XM_017009968.2:c.12183A>G | XP_016865457.1:p.Ser4061= | |
| XM_017009969.2:c.12183A>G | XP_016865458.1:p.Ser4061= | |
| XM_017009970.2:c.12183A>G | XP_016865459.1:p.Ser4061= | |
| XM_017009971.2:c.12183A>G | XP_016865460.1:p.Ser4061= | |
| XM_017009972.1:c.5301A>G | XP_016865461.1:p.Ser1767= | |
| XM_017009973.1:c.5280A>G | XP_016865462.1:p.Ser1760= | |
| NR_003149.2:n.12178A>G |