Linked Data
dbSNP Id:
rs1207759655
gnomAD v3:
X-78123462-T-G
gnomAD v4:
X-78123462-T-G
MyVariant Identifiers:
chrX:g.78123462T>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78123462T>G , CM000685.2:g.78123462T>G | GRCh38 |
| NC_000023.10:g.77378959T>G , CM000685.1:g.77378959T>G | GRCh37 |
| NC_000023.9:g.77265615T>G | NCBI36 |
| NG_008862.1:g.24294T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.936+88T>G MANE Select | ENSP00000362413.4:n.936+88T>G | |
| ENST00000644362.1:c.852+88T>G | ENSP00000496140.1:n.852+88T>G | |
| ENST00000373316.4:c.936+88T>G | ENSP00000362413.4:n.936+88T>G | |
| NM_000291.3:c.936+88T>G | NP_000282.1:n.936+88T>G | |
| NM_000291.4:c.936+88T>G MANE Select | NP_000282.1:n.936+88T>G |