Linked Data
dbSNP Id:
rs1275854104
gnomAD v4:
X-154380554-G-T
MyVariant Identifiers:
chrX:g.154380554G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380554G>T , CM000685.2:g.154380554G>T | GRCh38 |
| NC_000023.10:g.153608914G>T , CM000685.1:g.153608914G>T | GRCh37 |
| NC_000023.9:g.153262108G>T | NCBI36 |
| NG_008677.1:g.11119G>T , LRG_745:g.11119G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.399+187G>T | ENSP00000507245.1:n.399+187G>T | |
| ENST00000682478.1:n.589+187G>T | ||
| ENST00000683576.1:n.589+187G>T | ||
| ENST00000683627.1:c.399+187G>T | ENSP00000507533.1:n.399+187G>T | |
| ENST00000684082.1:c.356+187G>T | ENSP00000508266.1:n.356+187G>T | |
| ENST00000684633.1:n.371+187G>T | ||
| ENST00000684678.1:c.395+187G>T | ENSP00000507059.1:n.395+187G>T | |
| ENST00000369842.9:c.399+187G>T MANE Select | ENSP00000358857.4:n.399+187G>T | |
| ENST00000369835.3:c.294+187G>T | ENSP00000358850.3:n.294+187G>T | |
| ENST00000369842.8:c.399+187G>T | ENSP00000358857.4:n.399+187G>T | |
| ENST00000428228.5:c.*304+187G>T | ENSP00000401081.1:n.*304+187G>T | |
| ENST00000468294.5:n.359+187G>T | ||
| ENST00000485261.1:n.589+187G>T | ||
| ENST00000486738.5:n.757+187G>T | ||
| ENST00000492448.1:n.382+187G>T | ||
| NM_000117.2:c.399+187G>T , LRG_745t1:c.399+187G>T | NP_000108.1:n.399+187G>T | |
| XM_024452349.1:c.405+187G>T | XP_024308117.1:n.405+187G>T | |
| NM_000117.3:c.399+187G>T MANE Select | NP_000108.1:n.399+187G>T |