Linked Data
dbSNP Id:
rs2056732900
gnomAD v4:
X-119930021-A-G
MyVariant Identifiers:
chrX:g.119063984A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119930021A>G , CM000685.2:g.119930021A>G | GRCh38 |
| NC_000023.10:g.119063984A>G , CM000685.1:g.119063984A>G | GRCh37 |
| NC_000023.9:g.118948012A>G | NCBI36 |
| NG_021260.1:g.18752T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371410.5:c.1068T>C MANE Select | ENSP00000360464.3:p.Gly356= | |
| ENST00000652253.1:c.1064T>C | ||
| ENST00000371410.4:c.1068T>C | ENSP00000360464.3:p.Gly356= | |
| ENST00000477789.5:n.1996T>C | ||
| NM_024528.3:c.1068T>C | NP_078804.2:p.Gly356= | |
| XM_017029842.1:c.771T>C | XP_016885331.1:p.Gly257= | |
| NM_024528.4:c.1068T>C MANE Select | NP_078804.2:p.Gly356= |