Linked Data
ClinVar Variation Id:
624410
ClinVar RCV Id:
RCV000762632
dbSNP Id:
rs1569479610
gnomAD v4:
X-48524049-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48524049A>G , CM000685.2:g.48524049A>G | GRCh38 |
| NC_000023.10:g.48382437A>G , CM000685.1:g.48382437A>G | GRCh37 |
| NC_000023.9:g.48267381A>G | NCBI36 |
| NG_007452.1:g.7274A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.278A>G MANE Select | ENSP00000417052.1:p.Asp93Gly | |
| ENST00000651615.1:c.278A>G | ENSP00000498524.1:p.Asp93Gly | |
| ENST00000276096.10:n.236A>G | ||
| ENST00000414061.1:c.278A>G | ENSP00000405832.1:p.Asp93Gly | |
| ENST00000446158.5:c.278A>G | ENSP00000390031.1:p.Asp93Gly | |
| ENST00000495186.5:c.278A>G | ENSP00000417052.1:p.Asp93Gly | |
| ENST00000498425.1:n.399A>G | ||
| NM_006579.2:c.278A>G | NP_006570.1:p.Asp93Gly | |
| NM_006579.3:c.278A>G MANE Select | NP_006570.1:p.Asp93Gly |