Linked Data
ClinVar Variation Id:
288318
ClinVar RCV Id:
RCV000361251
dbSNP Id:
rs3763073
ExAC:
5:90119293 C / G
gnomAD v2:
5-90119293-C-G
gnomAD v3:
5-90823476-C-G
gnomAD v4:
5-90823476-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90823476C>G , CM000667.2:g.90823476C>G | GRCh38 |
| NC_000005.9:g.90119293C>G , CM000667.1:g.90119293C>G | GRCh37 |
| NC_000005.8:g.90155049C>G | NCBI36 |
| NG_007083.1:g.269677C>G | |
| NG_007083.2:g.299133C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.16248C>G MANE Select | ENSP00000384582.2:p.Val5416= | |
| ENST00000425867.3:c.5202C>G | ENSP00000392618.3:p.Val1734= | |
| ENST00000638510.1:n.3515C>G | ||
| ENST00000639431.1:c.265+147267C>G | ENSP00000491057.1:n.265+147267C>G | |
| ENST00000640061.1:n.128+1294C>G | ||
| ENST00000640407.1:c.2658C>G | ENSP00000491425.1:p.Val886= | |
| ENST00000405460.6:c.16248C>G | ENSP00000384582.2:p.Val5416= | |
| ENST00000425867.2:c.3231C>G | ENSP00000392618.2:p.Val1077= | |
| NM_032119.3:c.16248C>G | NP_115495.3:p.Val5416= | |
| NR_003149.1:n.16261C>G | ||
| XM_011543675.1:c.16245C>G | XP_011541977.1:p.Val5415= | |
| XM_011543676.1:c.16167C>G | XP_011541978.1:p.Val5389= | |
| XM_011543677.1:c.13551C>G | XP_011541979.1:p.Val4517= | |
| NM_032119.4:c.16248C>G MANE Select | NP_115495.3:p.Val5416= | |
| XM_017009963.2:c.16269C>G | XP_016865452.1:p.Val5423= | |
| XM_017009964.2:c.16266C>G | XP_016865453.1:p.Val5422= | |
| XM_017009965.1:c.16266C>G | XP_016865454.1:p.Val5422= | |
| XM_017009966.2:c.16188C>G | XP_016865455.1:p.Val5396= | |
| XM_017009967.1:c.16173C>G | XP_016865456.1:p.Val5391= | |
| XM_017009968.2:c.16089C>G | XP_016865457.1:p.Val5363= | |
| XM_017009969.2:c.16269C>G | XP_016865458.1:p.Val5423= | |
| XM_017009972.1:c.9387C>G | XP_016865461.1:p.Val3129= | |
| XM_017009973.1:c.9366C>G | XP_016865462.1:p.Val3122= | |
| NR_003149.2:n.16264C>G |