Linked Data
ClinVar Variation Id:
227406
dbSNP Id:
rs201180985
ExAC:
5:89918426 G / A
gnomAD v2:
5-89918426-G-A
gnomAD v3:
5-90622609-G-A
gnomAD v4:
5-90622609-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90622609G>A , CM000667.2:g.90622609G>A | GRCh38 |
| NC_000005.9:g.89918426G>A , CM000667.1:g.89918426G>A | GRCh37 |
| NC_000005.8:g.89954182G>A | NCBI36 |
| NG_007083.1:g.68810G>A | |
| NG_007083.2:g.98266G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.466G>A MANE Select | ENSP00000384582.2:p.Ala156Thr | |
| ENST00000638316.1:n.676G>A | ||
| ENST00000638638.1:n.873G>A | ||
| ENST00000640083.1:n.171G>A | ||
| ENST00000640109.1:n.562G>A | ||
| ENST00000640281.1:n.525G>A | ||
| ENST00000405460.6:c.466G>A | ENSP00000384582.2:p.Ala156Thr | |
| ENST00000508842.5:c.382G>A | ENSP00000425936.1:p.Ala128Thr | |
| NM_032119.3:c.466G>A | NP_115495.3:p.Ala156Thr | |
| NR_003149.1:n.562G>A | ||
| XM_011543675.1:c.466G>A | XP_011541977.1:p.Ala156Thr | |
| XM_011543676.1:c.466G>A | XP_011541978.1:p.Ala156Thr | |
| XM_011543678.1:c.466G>A | XP_011541980.1:p.Ala156Thr | |
| XM_011543679.1:c.466G>A | XP_011541981.1:p.Ala156Thr | |
| NM_032119.4:c.466G>A MANE Select | NP_115495.3:p.Ala156Thr | |
| XM_017009963.2:c.466G>A | XP_016865452.1:p.Ala156Thr | |
| XM_017009964.2:c.466G>A | XP_016865453.1:p.Ala156Thr | |
| XM_017009965.1:c.463G>A | XP_016865454.1:p.Ala155Thr | |
| XM_017009966.2:c.466G>A | XP_016865455.1:p.Ala156Thr | |
| XM_017009967.1:c.370G>A | XP_016865456.1:p.Ala124Thr | |
| XM_017009968.2:c.466G>A | XP_016865457.1:p.Ala156Thr | |
| XM_017009969.2:c.466G>A | XP_016865458.1:p.Ala156Thr | |
| XM_017009970.2:c.466G>A | XP_016865459.1:p.Ala156Thr | |
| XM_017009971.2:c.466G>A | XP_016865460.1:p.Ala156Thr | |
| XM_017009974.2:c.466G>A | XP_016865463.1:p.Ala156Thr | |
| NR_003149.2:n.565G>A |