Linked Data
dbSNP Id:
rs1351771230
gnomAD v3:
X-53256155-C-G
gnomAD v4:
X-53256155-C-G
MyVariant Identifiers:
chrX:g.53256155C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53256155C>G , CM000685.2:g.53256155C>G | GRCh38 |
| NC_000023.10:g.53285337C>G , CM000685.1:g.53285337C>G | GRCh37 |
| NC_000023.9:g.53302062C>G | NCBI36 |
| NG_021296.1:g.70186G>C | |
| NG_021296.2:g.70196G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706952.1:c.897-94G>C | ENSP00000516672.1:n.897-94G>C | |
| ENST00000638630.1:c.27-94G>C | ENSP00000492390.1:n.27-94G>C | |
| ENST00000640694.1:c.738-94G>C | ENSP00000492403.1:n.738-94G>C | |
| ENST00000642864.1:c.738-94G>C MANE Select | ENSP00000495726.1:n.738-94G>C | |
| ENST00000674510.1:c.738-94G>C | ENSP00000502054.1:n.738-94G>C | |
| ENST00000675719.1:c.708-94G>C | ENSP00000501927.1:n.708-94G>C | |
| ENST00000375365.2:c.123-94G>C | ENSP00000364514.2:n.123-94G>C | |
| ENST00000396435.7:c.738-94G>C | ENSP00000379712.3:n.738-94G>C | |
| NM_001111125.2:c.738-94G>C | NP_001104595.1:n.738-94G>C | |
| NM_015075.1:c.123-94G>C | NP_055890.1:n.123-94G>C | |
| XM_006724579.2:c.834-94G>C | XP_006724642.1:n.834-94G>C | |
| XM_006724580.2:c.123-94G>C | XP_006724643.1:n.123-94G>C | |
| XM_006724581.2:c.834-94G>C | XP_006724644.1:n.834-94G>C | |
| XM_006724582.2:c.834-94G>C | XP_006724645.1:n.834-94G>C | |
| XM_006724583.2:c.834-94G>C | XP_006724646.1:n.834-94G>C | |
| XM_006724584.2:c.834-94G>C | XP_006724647.1:n.834-94G>C | |
| XM_011530772.1:c.60-94G>C | XP_011529074.1:n.60-94G>C | |
| XM_011530773.1:c.27-94G>C | XP_011529075.1:n.27-94G>C | |
| XM_011530774.1:c.834-94G>C | XP_011529076.1:n.834-94G>C | |
| XM_011530775.1:c.834-94G>C | XP_011529077.1:n.834-94G>C | |
| XM_011530776.1:c.834-94G>C | XP_011529078.1:n.834-94G>C | |
| XM_011530777.1:c.834-94G>C | XP_011529079.1:n.834-94G>C | |
| XR_938365.1:n.1061-94G>C | ||
| XM_006724579.3:c.834-94G>C | XP_006724642.1:n.834-94G>C | |
| XM_006724580.3:c.123-94G>C | XP_006724643.1:n.123-94G>C | |
| XM_006724581.4:c.834-94G>C | XP_006724644.1:n.834-94G>C | |
| XM_006724582.4:c.834-94G>C | XP_006724645.1:n.834-94G>C | |
| XM_006724583.4:c.834-94G>C | XP_006724646.1:n.834-94G>C | |
| XM_006724584.3:c.834-94G>C | XP_006724647.1:n.834-94G>C | |
| XM_011530773.2:c.27-94G>C | XP_011529075.1:n.27-94G>C | |
| XM_011530774.3:c.834-94G>C | XP_011529076.1:n.834-94G>C | |
| XM_011530776.2:c.834-94G>C | XP_011529078.1:n.834-94G>C | |
| XM_011530777.2:c.834-94G>C | XP_011529079.1:n.834-94G>C | |
| XM_017029359.2:c.708-94G>C | XP_016884848.1:n.708-94G>C | |
| XM_017029360.1:c.240-94G>C | XP_016884849.1:n.240-94G>C | |
| XR_938365.2:n.1055-94G>C | ||
| NM_001111125.3:c.738-94G>C MANE Select | NP_001104595.1:n.738-94G>C | |
| NM_015075.2:c.123-94G>C | NP_055890.1:n.123-94G>C |