Linked Data
dbSNP Id:
rs1449624494
gnomAD v4:
X-154379648-C-T
MyVariant Identifiers:
chrX:g.154379648C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379648C>T , CM000685.2:g.154379648C>T | GRCh38 |
| NC_000023.10:g.153608008C>T , CM000685.1:g.153608008C>T | GRCh37 |
| NC_000023.9:g.153261202C>T | NCBI36 |
| NG_008677.1:g.10213C>T , LRG_745:g.10213C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682114.1:c.83-42C>T | ENSP00000507245.1:n.83-42C>T | |
| ENST00000682478.1:n.59-42C>T | ||
| ENST00000683576.1:n.59-42C>T | ||
| ENST00000683627.1:c.83-42C>T | ENSP00000507533.1:n.83-42C>T | |
| ENST00000684082.1:c.83-42C>T | ENSP00000508266.1:n.83-42C>T | |
| ENST00000684633.1:n.55-42C>T | ||
| ENST00000684678.1:c.79-42C>T | ENSP00000507059.1:n.79-42C>T | |
| ENST00000369842.9:c.83-42C>T MANE Select | ENSP00000358857.4:n.83-42C>T | |
| ENST00000369835.3:c.82+82C>T | ENSP00000358850.3:n.82+82C>T | |
| ENST00000369842.8:c.83-42C>T | ENSP00000358857.4:n.83-42C>T | |
| ENST00000428228.5:c.54-42C>T | ENSP00000401081.1:n.54-42C>T | |
| ENST00000468294.5:n.43-42C>T | ||
| ENST00000485261.1:n.163+82C>T | ||
| ENST00000486738.5:n.227-42C>T | ||
| ENST00000492448.1:n.24C>T | ||
| ENST00000494443.5:n.140-42C>T | ||
| NM_000117.2:c.83-42C>T , LRG_745t1:c.83-42C>T | NP_000108.1:n.83-42C>T | |
| XM_024452349.1:c.-126-42C>T | XP_024308117.1:n.-126-42C>T | |
| NM_000117.3:c.83-42C>T MANE Select | NP_000108.1:n.83-42C>T |