Linked Data
ClinVar Variation Id:
749420
ClinVar RCV Id:
RCV001472425
dbSNP Id:
rs1202642295
gnomAD v3:
X-154352933-T-G
gnomAD v4:
X-154352933-T-G
MyVariant Identifiers:
chrX:g.154352933T>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154352933T>G , CM000685.2:g.154352933T>G | GRCh38 |
| NC_000023.10:g.153581301T>G , CM000685.1:g.153581301T>G | GRCh37 |
| NC_000023.9:g.153234495T>G | NCBI36 |
| NG_011506.1:g.26706A>C | |
| NG_011506.2:g.26706A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6203-9A>C | ENSP00000353467.4:n.6203-9A>C | |
| ENST00000369850.10:c.6227-9A>C MANE Select | ENSP00000358866.3:n.6227-9A>C | |
| ENST00000369856.8:c.6146-9A>C | ENSP00000358872.4:n.6146-9A>C | |
| ENST00000422373.6:c.3161-258A>C | ENSP00000416926.2:n.3161-258A>C | |
| ENST00000610817.5:c.6284-9A>C | ENSP00000480593.2:n.6284-9A>C | |
| ENST00000673639.2:c.280-4243A>C | ||
| ENST00000676696.1:c.6506-9A>C | ENSP00000503392.1:n.6506-9A>C | |
| ENST00000678304.1:n.1406-9A>C | ||
| ENST00000344736.8:c.6107-9A>C | ENSP00000358863.3:n.6107-9A>C | |
| ENST00000360319.8:c.6203-9A>C | ENSP00000353467.4:n.6203-9A>C | |
| ENST00000369850.7:c.6227-9A>C | ENSP00000358866.3:n.6227-9A>C | |
| ENST00000369856.7:c.6146-9A>C | ENSP00000358872.4:n.6146-9A>C | |
| ENST00000415241.1:c.429-9A>C | ||
| ENST00000420627.5:c.6183-9A>C | ENSP00000408921.1:n.6183-9A>C | |
| ENST00000422373.5:c.6203-9A>C | ENSP00000416926.1:n.6203-9A>C | |
| ENST00000444578.1:c.170-9A>C | ENSP00000397824.1:n.170-9A>C | |
| ENST00000466325.1:n.433A>C | ||
| ENST00000490936.5:n.2216-9A>C | ||
| ENST00000610817.4:c.5844+460A>C | ENSP00000480593.1:n.5844+460A>C | |
| NM_001110556.1:c.6227-9A>C | NP_001104026.1:n.6227-9A>C | |
| NM_001456.3:c.6203-9A>C | NP_001447.2:n.6203-9A>C | |
| XM_011531127.1:c.6131-9A>C | XP_011529429.1:n.6131-9A>C | |
| XM_011531128.1:c.6107-9A>C | XP_011529430.1:n.6107-9A>C | |
| XM_011531129.1:c.6053-9A>C | XP_011529431.1:n.6053-9A>C | |
| XM_011531130.1:c.6029-9A>C | XP_011529432.1:n.6029-9A>C | |
| XM_011531131.1:c.6026-9A>C | XP_011529433.1:n.6026-9A>C | |
| NM_001110556.2:c.6227-9A>C MANE Select | NP_001104026.1:n.6227-9A>C | |
| NM_001456.4:c.6203-9A>C | NP_001447.2:n.6203-9A>C |