Linked Data
dbSNP Id:
rs1220115557
gnomAD v4:
X-149490539-C-A
MyVariant Identifiers:
chrX:g.149490539C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149490539C>A , CM000685.2:g.149490539C>A | GRCh38 |
| NC_000023.10:g.148572070C>A , CM000685.1:g.148572070C>A | GRCh37 |
| NC_000023.9:g.148379975C>A | NCBI36 |
| NG_011900.3:g.19796G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.880-99G>T MANE Select | ENSP00000339801.6:n.880-99G>T | |
| ENST00000651111.1:c.247-99G>T | ENSP00000498395.1:n.247-99G>T | |
| ENST00000340855.10:c.880-99G>T | ENSP00000339801.6:n.880-99G>T | |
| ENST00000370441.8:c.880-99G>T | ENSP00000359470.4:n.880-99G>T | |
| ENST00000422081.6:c.247-99G>T | ENSP00000477056.1:n.247-99G>T | |
| ENST00000441880.1:n.114-3441G>T | ||
| ENST00000464251.5:c.806-99G>T | ENSP00000428980.1:n.806-99G>T | |
| ENST00000466323.5:c.*71-99G>T | ENSP00000418264.1:n.*71-99G>T | |
| ENST00000490775.5:n.665-99G>T | ||
| NM_000202.6:c.880-99G>T | NP_000193.1:n.880-99G>T | |
| NM_001166550.2:c.610-99G>T | NP_001160022.1:n.610-99G>T | |
| NM_006123.4:c.880-99G>T | NP_006114.1:n.880-99G>T | |
| NR_104128.1:n.1227-99G>T | ||
| NM_000202.7:c.880-99G>T | NP_000193.1:n.880-99G>T | |
| NM_001166550.3:c.610-99G>T | NP_001160022.1:n.610-99G>T | |
| NM_000202.8:c.880-99G>T MANE Select | NP_000193.1:n.880-99G>T | |
| NM_001166550.4:c.610-99G>T | NP_001160022.1:n.610-99G>T | |
| NM_006123.5:c.880-99G>T | NP_006114.1:n.880-99G>T | |
| NR_104128.2:n.1179-99G>T |