Linked Data
dbSNP Id:
rs950063409
gnomAD v4:
X-21978957-C-T
MyVariant Identifiers:
chrX:g.21997075C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21978957C>T , CM000685.2:g.21978957C>T | GRCh38 |
| NC_000023.10:g.21997075C>T , CM000685.1:g.21997075C>T | GRCh37 |
| NC_000023.9:g.21906996C>T | NCBI36 |
| NG_009228.1:g.43234C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404933.7:c.741C>T MANE Select | ENSP00000385746.2:p.Asp247= | |
| ENST00000379404.5:c.582C>T | ENSP00000368714.1:p.Asp194= | |
| ENST00000404933.6:c.741C>T | ENSP00000385746.2:p.Asp247= | |
| NM_001258423.1:c.582C>T | NP_001245352.1:p.Asp194= | |
| NM_004595.4:c.741C>T | NP_004586.2:p.Asp247= | |
| XM_005274582.1:c.639C>T | XP_005274639.1:p.Asp213= | |
| XM_011545568.1:c.639C>T | XP_011543870.1:p.Asp213= | |
| XM_005274582.2:c.639C>T | XP_005274639.1:p.Asp213= | |
| XM_011545568.2:c.639C>T | XP_011543870.1:p.Asp213= | |
| XM_017029753.2:c.741C>T | XP_016885242.1:p.Asp247= | |
| XM_017029754.1:c.639C>T | XP_016885243.1:p.Asp213= | |
| XM_017029755.1:c.639C>T | XP_016885244.1:p.Asp213= | |
| XM_024452427.1:c.639C>T | XP_024308195.1:p.Asp213= | |
| NM_004595.5:c.741C>T MANE Select | NP_004586.2:p.Asp247= | |
| NM_001258423.2:c.582C>T | NP_001245352.1:p.Asp194= |