Linked Data
dbSNP Id:
rs1407019
gnomAD v2:
20-31825797-G-A
gnomAD v3:
20-33237991-G-A
gnomAD v4:
20-33237991-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33237991G>A , CM000682.2:g.33237991G>A | GRCh38 |
| NC_000020.10:g.31825797G>A , CM000682.1:g.31825797G>A | GRCh37 |
| NC_000020.9:g.31289458G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354297.9:c.161-64G>A MANE Select | ENSP00000346251.4:n.161-64G>A | |
| ENST00000354297.8:c.161-64G>A | ENSP00000346251.4:n.161-64G>A | |
| ENST00000375413.8:c.161-64G>A | ENSP00000364562.4:n.161-64G>A | |
| ENST00000375422.6:c.161-64G>A | ENSP00000364571.2:n.161-64G>A | |
| ENST00000618484.1:c.119-64G>A | ENSP00000482297.1:n.119-64G>A | |
| NM_001243193.1:c.161-64G>A | NP_001230122.1:n.161-64G>A | |
| NM_016583.3:c.161-64G>A | NP_057667.1:n.161-64G>A | |
| NM_130852.2:c.161-64G>A | NP_570913.1:n.161-64G>A | |
| XR_430298.1:n.230-64G>A | ||
| NM_130852.3:c.161-64G>A MANE Select | NP_570913.1:n.161-64G>A | |
| NM_001243193.2:c.161-64G>A | NP_001230122.1:n.161-64G>A | |
| NM_016583.4:c.161-64G>A | NP_057667.1:n.161-64G>A |