Linked Data
dbSNP Id:
rs765105352
ExAC:
20:30407953 G / A
gnomAD v2:
20-30407953-G-A
gnomAD v3:
20-31820150-G-A
gnomAD v4:
20-31820150-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31820150G>A , CM000682.2:g.31820150G>A | GRCh38 |
| NC_000020.10:g.30407953G>A , CM000682.1:g.30407953G>A | GRCh37 |
| NC_000020.9:g.29871614G>A | NCBI36 |
| NG_012847.1:g.5776G>A , LRG_392:g.5776G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375985.5:c.77G>A MANE Select | ENSP00000365152.4:p.Gly26Asp | |
| ENST00000375985.4:c.77G>A | ENSP00000365152.4:p.Gly26Asp | |
| ENST00000375994.6:c.77G>A | ENSP00000365162.2:p.Gly26Asp | |
| NM_033118.3:c.77G>A , LRG_392t1:c.77G>A | NP_149109.1:p.Gly26Asp | |
| XR_244155.1:n.242G>A | ||
| NM_033118.4:c.77G>A MANE Select | NP_149109.1:p.Gly26Asp |