Linked Data
dbSNP Id:
rs2070358280
gnomAD v3:
X-154532951-T-G
gnomAD v4:
X-154532951-T-G
MyVariant Identifiers:
chrX:g.153761166T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154532951T>G , CM000685.2:g.154532951T>G | GRCh38 |
| NC_000023.10:g.153761166T>G , CM000685.1:g.153761166T>G | GRCh37 |
| NC_000023.9:g.153414360T>G | NCBI36 |
| NG_009015.2:g.19622A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393564.7:c.1042A>C | ENSP00000377194.2:p.Arg348= | |
| ENST00000439227.6:c.1045A>C | ENSP00000395599.2:p.Arg349= | |
| ENST00000696420.1:c.1042A>C | ENSP00000512615.1:p.Arg348= | |
| ENST00000696421.1:c.1042A>C | ENSP00000512616.1:p.Arg348= | |
| ENST00000696422.1:c.905A>C | ||
| ENST00000696423.1:c.908A>C | ||
| ENST00000696424.1:c.894A>C | ENSP00000512619.1:n.894A>C | |
| ENST00000696425.1:c.865-149A>C | ENSP00000512620.1:n.865-149A>C | |
| ENST00000696426.1:c.*502A>C | ENSP00000512621.1:n.*502A>C | |
| ENST00000696427.1:c.*2A>C | ENSP00000512622.1:n.*2A>C | |
| ENST00000696428.1:c.*884A>C | ENSP00000512623.1:n.*884A>C | |
| ENST00000696429.1:c.1042A>C | ENSP00000512624.1:p.Arg348= | |
| ENST00000696430.1:c.1042A>C | ENSP00000512625.1:p.Arg348= | |
| ENST00000393562.10:c.1042A>C MANE Select | ENSP00000377192.3:p.Arg348= | |
| ENST00000369620.6:c.1180A>C | ENSP00000358633.2:p.Arg394= | |
| ENST00000393562.6:c.1132A>C | ENSP00000377192.2:p.Arg378= | |
| ENST00000393564.6:c.1042A>C | ENSP00000377194.2:p.Arg348= | |
| ENST00000490651.1:n.124A>C | ||
| ENST00000621232.4:c.1042A>C | ENSP00000483686.1:p.Arg348= | |
| NM_000402.4:c.1132A>C | NP_000393.4:p.Arg378= | |
| NM_001042351.2:c.1042A>C | NP_001035810.1:p.Arg348= | |
| XM_005274657.2:c.1135A>C | XP_005274714.1:p.Arg379= | |
| XM_005274658.2:c.1045A>C | XP_005274715.1:p.Arg349= | |
| XM_011531132.1:c.958-149A>C | XP_011529434.1:n.958-149A>C | |
| NM_001360016.2:c.1042A>C MANE Select | NP_001346945.1:p.Arg348= | |
| NM_001042351.3:c.1042A>C | NP_001035810.1:p.Arg348= |