Linked Data
ClinVar Variation Id:
931035
ClinVar RCV Id:
RCV001197199
dbSNP Id:
rs1393526656
gnomAD v3:
4-88007828-G-A
gnomAD v4:
4-88007828-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88007828G>A , CM000666.2:g.88007828G>A | GRCh38 |
| NC_000004.11:g.88928980G>A , CM000666.1:g.88928980G>A | GRCh37 |
| NC_000004.10:g.89148004G>A | NCBI36 |
| NG_008604.1:g.5161G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.95G>A MANE Select | ENSP00000237596.2:p.Gly32Asp | |
| ENST00000237596.6:c.95G>A | ENSP00000237596.2:p.Gly32Asp | |
| NM_000297.3:c.95G>A | NP_000288.1:p.Gly32Asp | |
| XM_011532028.1:c.95G>A | XP_011530330.1:p.Gly32Asp | |
| XR_244632.2:n.190G>A | ||
| NR_156488.1:n.182G>A | ||
| XM_011532028.2:c.95G>A | XP_011530330.1:p.Gly32Asp | |
| NM_000297.4:c.95G>A MANE Select | NP_000288.1:p.Gly32Asp | |
| NR_156488.2:n.194G>A |