Linked Data
dbSNP Id:
rs1265667513
gnomAD v3:
X-78123154-G-C
gnomAD v4:
X-78123154-G-C
MyVariant Identifiers:
chrX:g.78123154G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78123154G>C , CM000685.2:g.78123154G>C | GRCh38 |
| NC_000023.10:g.77378651G>C , CM000685.1:g.77378651G>C | GRCh37 |
| NC_000023.9:g.77265307G>C | NCBI36 |
| NG_008862.1:g.23986G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.757-41G>C MANE Select | ENSP00000362413.4:n.757-41G>C | |
| ENST00000644362.1:c.673-41G>C | ENSP00000496140.1:n.673-41G>C | |
| ENST00000373316.4:c.757-41G>C | ENSP00000362413.4:n.757-41G>C | |
| ENST00000474281.1:n.164-41G>C | ||
| NM_000291.3:c.757-41G>C | NP_000282.1:n.757-41G>C | |
| NM_000291.4:c.757-41G>C MANE Select | NP_000282.1:n.757-41G>C |