Linked Data
dbSNP Id:
rs1557182386
gnomAD v2:
X-153608393-T-C
gnomAD v4:
X-154380033-T-C
MyVariant Identifiers:
chrX:g.153608393T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380033T>C , CM000685.2:g.154380033T>C | GRCh38 |
| NC_000023.10:g.153608393T>C , CM000685.1:g.153608393T>C | GRCh37 |
| NC_000023.9:g.153261587T>C | NCBI36 |
| NG_008677.1:g.10598T>C , LRG_745:g.10598T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.265+14T>C | ENSP00000507245.1:n.265+14T>C | |
| ENST00000682478.1:n.255T>C | ||
| ENST00000683576.1:n.255T>C | ||
| ENST00000683627.1:c.265+14T>C | ENSP00000507533.1:n.265+14T>C | |
| ENST00000684082.1:c.265+14T>C | ENSP00000508266.1:n.265+14T>C | |
| ENST00000684633.1:n.237+14T>C | ||
| ENST00000684678.1:c.261+14T>C | ENSP00000507059.1:n.261+14T>C | |
| ENST00000369842.9:c.265+14T>C MANE Select | ENSP00000358857.4:n.265+14T>C | |
| ENST00000369835.3:c.160+14T>C | ENSP00000358850.3:n.160+14T>C | |
| ENST00000369842.8:c.265+14T>C | ENSP00000358857.4:n.265+14T>C | |
| ENST00000428228.5:c.*170+14T>C | ENSP00000401081.1:n.*170+14T>C | |
| ENST00000468294.5:n.225+14T>C | ||
| ENST00000485261.1:n.255T>C | ||
| ENST00000486738.5:n.423T>C | ||
| ENST00000492448.1:n.248+14T>C | ||
| ENST00000494443.5:n.336T>C | ||
| NM_000117.2:c.265+14T>C , LRG_745t1:c.265+14T>C | NP_000108.1:n.265+14T>C | |
| XM_024452349.1:c.71T>C | XP_024308117.1:p.Leu24Ser | |
| NM_000117.3:c.265+14T>C MANE Select | NP_000108.1:n.265+14T>C |