Linked Data
dbSNP Id:
rs2067633750
gnomAD v4:
X-154353068-A-G
MyVariant Identifiers:
chrX:g.153581436A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154353068A>G , CM000685.2:g.154353068A>G | GRCh38 |
| NC_000023.10:g.153581436A>G , CM000685.1:g.153581436A>G | GRCh37 |
| NC_000023.9:g.153234630A>G | NCBI36 |
| NG_011506.1:g.26571T>C | |
| NG_011506.2:g.26571T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6135T>C | ENSP00000353467.4:p.Ser2045= | |
| ENST00000369850.10:c.6159T>C MANE Select | ENSP00000358866.3:p.Ser2053= | |
| ENST00000369856.8:c.6078T>C | ENSP00000358872.4:p.Ser2026= | |
| ENST00000422373.6:c.3161-393T>C | ENSP00000416926.2:n.3161-393T>C | |
| ENST00000610817.5:c.6216T>C | ENSP00000480593.2:n.6216T>C | |
| ENST00000673639.2:c.280-4378T>C | ||
| ENST00000676696.1:c.6438T>C | ENSP00000503392.1:n.6438T>C | |
| ENST00000678304.1:n.1338T>C | ||
| ENST00000344736.8:c.6039T>C | ENSP00000358863.3:p.Ser2013= | |
| ENST00000360319.8:c.6135T>C | ENSP00000353467.4:p.Ser2045= | |
| ENST00000369850.7:c.6159T>C | ENSP00000358866.3:p.Ser2053= | |
| ENST00000369856.7:c.6078T>C | ENSP00000358872.4:p.Ser2026= | |
| ENST00000415241.1:c.361T>C | ||
| ENST00000420627.5:c.6115T>C | ENSP00000408921.1:n.6115T>C | |
| ENST00000422373.5:c.6135T>C | ENSP00000416926.1:p.Ser2045= | |
| ENST00000444578.1:c.102T>C | ENSP00000397824.1:p.Ser34= | |
| ENST00000466325.1:n.298T>C | ||
| ENST00000490936.5:n.2148T>C | ||
| ENST00000610817.4:c.5844+325T>C | ENSP00000480593.1:n.5844+325T>C | |
| NM_001110556.1:c.6159T>C | NP_001104026.1:p.Ser2053= | |
| NM_001456.3:c.6135T>C | NP_001447.2:p.Ser2045= | |
| XM_011531127.1:c.6063T>C | XP_011529429.1:p.Ser2021= | |
| XM_011531128.1:c.6039T>C | XP_011529430.1:p.Ser2013= | |
| XM_011531129.1:c.5985T>C | XP_011529431.1:p.Ser1995= | |
| XM_011531130.1:c.5961T>C | XP_011529432.1:p.Ser1987= | |
| XM_011531131.1:c.5958T>C | XP_011529433.1:p.Ser1986= | |
| NM_001110556.2:c.6159T>C MANE Select | NP_001104026.1:p.Ser2053= | |
| NM_001456.4:c.6135T>C | NP_001447.2:p.Ser2045= |