Linked Data
ClinVar Variation Id:
338680
ClinVar RCV Id:
RCV000373085
dbSNP Id:
rs375056092
ExAC:
20:47538422 G / A
gnomAD v2:
20-47538422-G-A
gnomAD v3:
20-48921885-G-A
gnomAD v4:
20-48921885-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.48921885G>A , CM000682.2:g.48921885G>A | GRCh38 |
| NC_000020.10:g.47538422G>A , CM000682.1:g.47538422G>A | GRCh37 |
| NC_000020.9:g.46971829G>A | NCBI36 |
| NG_011490.1:g.5148G>A | |
| NG_011490.2:g.5148G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371917.5:c.-5G>A MANE Select | ENSP00000360985.4:n.-5G>A | |
| ENST00000681399.1:c.-5G>A | ENSP00000506363.1:n.-5G>A | |
| NM_006420.2:c.-5G>A | NP_006411.2:n.-5G>A | |
| XM_005260252.2:c.-5G>A | XP_005260309.1:n.-5G>A | |
| XM_005260252.3:c.-5G>A | XP_005260309.1:n.-5G>A | |
| NM_006420.3:c.-5G>A MANE Select | NP_006411.2:n.-5G>A |