Linked Data
dbSNP Id:
rs780992085
gnomAD v2:
15-66995659-C-A
gnomAD v3:
15-66703321-C-A
gnomAD v4:
15-66703321-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66703321C>A , CM000677.2:g.66703321C>A | GRCh38 |
| NC_000015.9:g.66995659C>A , CM000677.1:g.66995659C>A | GRCh37 |
| NC_000015.8:g.64782713C>A | NCBI36 |
| NG_012244.1:g.5986C>A | |
| NG_012244.2:g.5986C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.63C>A MANE Select | ENSP00000288840.5:p.Asp21Glu | |
| ENST00000288840.9:c.63C>A | ENSP00000288840.5:p.Asp21Glu | |
| ENST00000557916.5:c.63C>A | ENSP00000452955.1:p.Asp21Glu | |
| ENST00000612349.1:n.245C>A | ||
| NM_005585.4:c.63C>A | NP_005576.3:p.Asp21Glu | |
| NR_027654.1:n.986C>A | ||
| XR_931825.1:n.1222C>A | ||
| XR_931826.1:n.1222C>A | ||
| XR_931827.1:n.1222C>A | ||
| XR_931827.2:n.1212C>A | ||
| NM_005585.5:c.63C>A MANE Select | NP_005576.3:p.Asp21Glu | |
| NR_027654.2:n.1086C>A |