Linked Data
ClinVar Variation Id:
46259
dbSNP Id:
rs199839743
ExAC:
5:90059270 C / A
gnomAD v2:
5-90059270-C-A
gnomAD v3:
5-90763453-C-A
gnomAD v4:
5-90763453-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90763453C>A , CM000667.2:g.90763453C>A | GRCh38 |
| NC_000005.9:g.90059270C>A , CM000667.1:g.90059270C>A | GRCh37 |
| NC_000005.8:g.90095026C>A | NCBI36 |
| NG_007083.1:g.209654C>A | |
| NG_007083.2:g.239110C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12269C>A MANE Select | ENSP00000384582.2:p.Thr4090Asn | |
| ENST00000425867.3:c.1223C>A | ENSP00000392618.3:p.Thr408Asn | |
| ENST00000639431.1:c.265+87244C>A | ENSP00000491057.1:n.265+87244C>A | |
| ENST00000640464.1:n.2688C>A | ||
| ENST00000640729.1:n.846C>A | ||
| ENST00000405460.6:c.12269C>A | ENSP00000384582.2:p.Thr4090Asn | |
| NM_032119.3:c.12269C>A | NP_115495.3:p.Thr4090Asn | |
| NR_003149.1:n.12282C>A | ||
| XM_011543675.1:c.12266C>A | XP_011541977.1:p.Thr4089Asn | |
| XM_011543676.1:c.12188C>A | XP_011541978.1:p.Thr4063Asn | |
| XM_011543677.1:c.9572C>A | XP_011541979.1:p.Thr3191Asn | |
| XM_011543678.1:c.12269C>A | XP_011541980.1:p.Thr4090Asn | |
| NM_032119.4:c.12269C>A MANE Select | NP_115495.3:p.Thr4090Asn | |
| XM_017009963.2:c.12290C>A | XP_016865452.1:p.Thr4097Asn | |
| XM_017009964.2:c.12287C>A | XP_016865453.1:p.Thr4096Asn | |
| XM_017009965.1:c.12287C>A | XP_016865454.1:p.Thr4096Asn | |
| XM_017009966.2:c.12209C>A | XP_016865455.1:p.Thr4070Asn | |
| XM_017009967.1:c.12194C>A | XP_016865456.1:p.Thr4065Asn | |
| XM_017009968.2:c.12290C>A | XP_016865457.1:p.Thr4097Asn | |
| XM_017009969.2:c.12290C>A | XP_016865458.1:p.Thr4097Asn | |
| XM_017009970.2:c.12290C>A | XP_016865459.1:p.Thr4097Asn | |
| XM_017009971.2:c.12290C>A | XP_016865460.1:p.Thr4097Asn | |
| XM_017009972.1:c.5408C>A | XP_016865461.1:p.Thr1803Asn | |
| XM_017009973.1:c.5387C>A | XP_016865462.1:p.Thr1796Asn | |
| NR_003149.2:n.12285C>A |