Linked Data
ClinVar Variation Id:
504586
dbSNP Id:
rs373862154
ExAC:
5:90136657 C / T
gnomAD v2:
5-90136657-C-T
gnomAD v3:
5-90840840-C-T
gnomAD v4:
5-90840840-C-T
COSMIC:
COSM3856866
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90840840C>T , CM000667.2:g.90840840C>T | GRCh38 |
| NC_000005.9:g.90136657C>T , CM000667.1:g.90136657C>T | GRCh37 |
| NC_000005.8:g.90172413C>T | NCBI36 |
| NG_007083.1:g.287041C>T | |
| NG_007083.2:g.316497C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.16874C>T MANE Select | ENSP00000384582.2:p.Ser5625Leu | |
| ENST00000425867.3:c.5828C>T | ENSP00000392618.3:p.Ser1943Leu | |
| ENST00000638510.1:n.4141C>T | ||
| ENST00000639431.1:c.266-144504C>T | ENSP00000491057.1:n.266-144504C>T | |
| ENST00000640061.1:n.391C>T | ||
| ENST00000640407.1:c.3323C>T | ENSP00000491425.1:n.3323C>T | |
| ENST00000405460.6:c.16874C>T | ENSP00000384582.2:p.Ser5625Leu | |
| ENST00000425867.2:c.3857C>T | ENSP00000392618.2:p.Ser1286Leu | |
| NM_032119.3:c.16874C>T | NP_115495.3:p.Ser5625Leu | |
| NR_003149.1:n.16887C>T | ||
| XM_011543675.1:c.16871C>T | XP_011541977.1:p.Ser5624Leu | |
| XM_011543676.1:c.16793C>T | XP_011541978.1:p.Ser5598Leu | |
| XM_011543677.1:c.14177C>T | XP_011541979.1:p.Ser4726Leu | |
| NM_032119.4:c.16874C>T MANE Select | NP_115495.3:p.Ser5625Leu | |
| XM_017009963.2:c.16895C>T | XP_016865452.1:p.Ser5632Leu | |
| XM_017009964.2:c.16892C>T | XP_016865453.1:p.Ser5631Leu | |
| XM_017009965.1:c.16892C>T | XP_016865454.1:p.Ser5631Leu | |
| XM_017009966.2:c.16814C>T | XP_016865455.1:p.Ser5605Leu | |
| XM_017009967.1:c.16799C>T | XP_016865456.1:p.Ser5600Leu | |
| XM_017009968.2:c.16715C>T | XP_016865457.1:p.Ser5572Leu | |
| XM_017009969.2:c.16895C>T | XP_016865458.1:p.Ser5632Leu | |
| XM_017009972.1:c.10013C>T | XP_016865461.1:p.Ser3338Leu | |
| XM_017009973.1:c.9992C>T | XP_016865462.1:p.Ser3331Leu | |
| NR_003149.2:n.16890C>T |