Linked Data
ClinVar Variation Id:
930666
ClinVar RCV Id:
RCV001196496
dbSNP Id:
rs2068530314
gnomAD v4:
X-38409003-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38409003A>G , CM000685.2:g.38409003A>G | GRCh38 |
| NC_000023.10:g.38268256A>G , CM000685.1:g.38268256A>G | GRCh37 |
| NC_000023.9:g.38153200A>G | NCBI36 |
| NG_008471.1:g.61521A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.845A>G MANE Select | ENSP00000039007.4:p.Gln282Arg | |
| ENST00000643344.1:c.*595A>G | ENSP00000496606.1:n.*595A>G | |
| ENST00000039007.4:c.845A>G | ENSP00000039007.4:p.Gln282Arg | |
| ENST00000465127.1:c.172-257118A>G | ENSP00000417050.1:n.172-257118A>G | |
| NM_000531.5:c.845A>G | NP_000522.3:p.Gln282Arg | |
| XM_017029556.1:c.845A>G | XP_016885045.1:p.Gln282Arg | |
| NM_000531.6:c.845A>G MANE Select | NP_000522.3:p.Gln282Arg |