Linked Data
dbSNP Id:
rs2080438481
gnomAD v4:
X-68829628-G-A
MyVariant Identifiers:
chrX:g.68049471G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68829628G>A , CM000685.2:g.68829628G>A | GRCh38 |
| NC_000023.10:g.68049471G>A , CM000685.1:g.68049471G>A | GRCh37 |
| NC_000023.9:g.67966196G>A | NCBI36 |
| NG_008887.1:g.5632G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.-149G>A MANE Select | ENSP00000204961.4:n.-149G>A | |
| ENST00000204961.4:c.-149G>A | ENSP00000204961.4:n.-149G>A | |
| NM_004429.4:c.-149G>A | NP_004420.1:n.-149G>A | |
| NM_004429.5:c.-149G>A MANE Select | NP_004420.1:n.-149G>A |