Linked Data
ClinVar Variation Id:
259979
dbSNP Id:
rs4810905
ExAC:
20:47604825 G / A
gnomAD v2:
20-47604825-G-A
gnomAD v3:
20-48988288-G-A
gnomAD v4:
20-48988288-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.48988288G>A , CM000682.2:g.48988288G>A | GRCh38 |
| NC_000020.10:g.47604825G>A , CM000682.1:g.47604825G>A | GRCh37 |
| NC_000020.9:g.47038232G>A | NCBI36 |
| NG_011490.1:g.71551G>A | |
| NG_011490.2:g.71551G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371917.5:c.2277-16G>A MANE Select | ENSP00000360985.4:n.2277-16G>A | |
| ENST00000679436.1:c.2274-16G>A | ENSP00000504888.1:n.2274-16G>A | |
| ENST00000679542.1:n.1834-16G>A | ||
| ENST00000680635.1:n.1834-16G>A | ||
| ENST00000680871.1:c.2125-16G>A | ENSP00000505042.1:n.2125-16G>A | |
| ENST00000681021.1:c.2277-16G>A | ENSP00000505972.1:n.2277-16G>A | |
| ENST00000681399.1:c.*1954-16G>A | ENSP00000506363.1:n.*1954-16G>A | |
| ENST00000681656.1:c.2168-16G>A | ENSP00000505638.1:n.2168-16G>A | |
| ENST00000681885.1:c.2277-16G>A | ENSP00000505737.1:n.2277-16G>A | |
| ENST00000371917.4:c.2277-16G>A | ENSP00000360985.4:n.2277-16G>A | |
| NM_006420.2:c.2277-16G>A | NP_006411.2:n.2277-16G>A | |
| XM_005260252.2:c.2274-16G>A | XP_005260309.1:n.2274-16G>A | |
| XM_005260252.3:c.2274-16G>A | XP_005260309.1:n.2274-16G>A | |
| NM_006420.3:c.2277-16G>A MANE Select | NP_006411.2:n.2277-16G>A |