Linked Data
ClinVar Variation Id:
110040
dbSNP Id:
rs201391886
ExAC:
5:89953850 G / A
gnomAD v2:
5-89953850-G-A
gnomAD v3:
5-90658033-G-A
gnomAD v4:
5-90658033-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90658033G>A , CM000667.2:g.90658033G>A | GRCh38 |
| NC_000005.9:g.89953850G>A , CM000667.1:g.89953850G>A | GRCh37 |
| NC_000005.8:g.89989606G>A | NCBI36 |
| NG_007083.1:g.104234G>A | |
| NG_007083.2:g.133690G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.4507G>A MANE Select | ENSP00000384582.2:p.Ala1503Thr | |
| ENST00000639676.1:n.2105G>A | ||
| ENST00000640403.1:c.1798G>A | ENSP00000492531.1:p.Ala600Thr | |
| ENST00000405460.6:c.4507G>A | ENSP00000384582.2:p.Ala1503Thr | |
| NM_032119.3:c.4507G>A | NP_115495.3:p.Ala1503Thr | |
| NR_003149.1:n.4603G>A | ||
| XM_011543675.1:c.4507G>A | XP_011541977.1:p.Ala1503Thr | |
| XM_011543676.1:c.4507G>A | XP_011541978.1:p.Ala1503Thr | |
| XM_011543677.1:c.1810G>A | XP_011541979.1:p.Ala604Thr | |
| XM_011543678.1:c.4507G>A | XP_011541980.1:p.Ala1503Thr | |
| XM_011543679.1:c.4507G>A | XP_011541981.1:p.Ala1503Thr | |
| NM_032119.4:c.4507G>A MANE Select | NP_115495.3:p.Ala1503Thr | |
| XM_017009963.2:c.4507G>A | XP_016865452.1:p.Ala1503Thr | |
| XM_017009964.2:c.4507G>A | XP_016865453.1:p.Ala1503Thr | |
| XM_017009965.1:c.4504G>A | XP_016865454.1:p.Ala1502Thr | |
| XM_017009966.2:c.4507G>A | XP_016865455.1:p.Ala1503Thr | |
| XM_017009967.1:c.4411G>A | XP_016865456.1:p.Ala1471Thr | |
| XM_017009968.2:c.4507G>A | XP_016865457.1:p.Ala1503Thr | |
| XM_017009969.2:c.4507G>A | XP_016865458.1:p.Ala1503Thr | |
| XM_017009970.2:c.4507G>A | XP_016865459.1:p.Ala1503Thr | |
| XM_017009971.2:c.4507G>A | XP_016865460.1:p.Ala1503Thr | |
| XM_017009974.2:c.4507G>A | XP_016865463.1:p.Ala1503Thr | |
| NR_003149.2:n.4606G>A |