Linked Data
ClinVar Variation Id:
2081983
ClinVar RCV Id:
RCV002979857
dbSNP Id:
rs2048713831
gnomAD v4:
X-25013727-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013727C>G , CM000685.2:g.25013727C>G | GRCh38 |
| NC_000023.10:g.25031844C>G , CM000685.1:g.25031844C>G | GRCh37 |
| NC_000023.9:g.24941765C>G | NCBI36 |
| NG_008281.1:g.7222G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.268G>C MANE Select | ENSP00000368332.4:p.Gly90Arg | |
| ENST00000379044.4:c.268G>C | ENSP00000368332.4:p.Gly90Arg | |
| NM_139058.2:c.268G>C | NP_620689.1:p.Gly90Arg | |
| NM_139058.3:c.268G>C MANE Select | NP_620689.1:p.Gly90Arg |