Linked Data
dbSNP Id:
rs761419665
gnomAD v2:
X-47434212-G-C
gnomAD v4:
X-47574813-G-C
MyVariant Identifiers:
chrX:g.47434212G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47574813G>C , CM000685.2:g.47574813G>C | GRCh38 |
| NC_000023.10:g.47434212G>C , CM000685.1:g.47434212G>C | GRCh37 |
| NC_000023.9:g.47319156G>C | NCBI36 |
| NG_008437.1:g.50045C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.1306-38C>G MANE Select | ENSP00000295987.7:n.1306-38C>G | |
| ENST00000340666.5:c.1306-38C>G | ENSP00000343206.4:n.1306-38C>G | |
| ENST00000295987.11:c.1306-38C>G | ENSP00000295987.7:n.1306-38C>G | |
| ENST00000340666.4:c.1306-38C>G | ENSP00000343206.4:n.1306-38C>G | |
| NM_006950.3:c.1306-38C>G MANE Select | NP_008881.2:n.1306-38C>G | |
| NM_133499.2:c.1306-38C>G | NP_598006.1:n.1306-38C>G |