Linked Data
ClinVar Variation Id:
1570425
dbSNP Id:
rs2123995105
gnomAD v4:
X-149483187-C-G
MyVariant Identifiers:
chrX:g.148564718C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149483187C>G , CM000685.2:g.149483187C>G | GRCh38 |
| NC_000023.10:g.148564718C>G , CM000685.1:g.148564718C>G | GRCh37 |
| NC_000023.9:g.148372623C>G | NCBI36 |
| NG_011900.3:g.27148G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1212G>C MANE Select | ENSP00000339801.6:p.Val404= | |
| ENST00000651111.1:c.579G>C | ENSP00000498395.1:p.Val193= | |
| ENST00000340855.10:c.1212G>C | ENSP00000339801.6:p.Val404= | |
| ENST00000422081.6:c.579G>C | ENSP00000477056.1:p.Val193= | |
| ENST00000441880.1:n.319G>C | ||
| NM_000202.6:c.1212G>C | NP_000193.1:p.Val404= | |
| NM_001166550.2:c.942G>C | NP_001160022.1:p.Val314= | |
| NM_000202.7:c.1212G>C | NP_000193.1:p.Val404= | |
| NM_001166550.3:c.942G>C | NP_001160022.1:p.Val314= | |
| NM_000202.8:c.1212G>C MANE Select | NP_000193.1:p.Val404= | |
| NM_001166550.4:c.942G>C | NP_001160022.1:p.Val314= |