Linked Data
dbSNP Id:
rs2147103078
gnomAD v4:
X-43731813-G-A
MyVariant Identifiers:
chrX:g.43591060G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43731813G>A , CM000685.2:g.43731813G>A | GRCh38 |
| NC_000023.10:g.43591060G>A , CM000685.1:g.43591060G>A | GRCh37 |
| NC_000023.9:g.43476004G>A | NCBI36 |
| NG_008957.2:g.80653G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542639.6:c.516G>A | ENSP00000440846.1:p.Lys172= | |
| ENST00000686683.1:c.225G>A | ENSP00000509063.1:p.Lys75= | |
| ENST00000686980.1:n.1047G>A | ||
| ENST00000688006.1:c.516G>A | ENSP00000510311.1:p.Lys172= | |
| ENST00000688859.1:n.471G>A | ||
| ENST00000689087.1:c.516G>A | ENSP00000508997.1:p.Lys172= | |
| ENST00000693128.1:c.810G>A | ENSP00000508493.1:p.Lys270= | |
| ENST00000338702.4:c.915G>A MANE Select | ENSP00000340684.3:p.Lys305= | |
| ENST00000338702.3:c.915G>A | ENSP00000340684.3:p.Lys305= | |
| ENST00000542639.5:c.516G>A | ENSP00000440846.1:p.Lys172= | |
| NM_000240.3:c.915G>A | NP_000231.1:p.Lys305= | |
| NM_001270458.1:c.516G>A | NP_001257387.1:p.Lys172= | |
| NM_000240.4:c.915G>A MANE Select | NP_000231.1:p.Lys305= | |
| NM_001270458.2:c.516G>A | NP_001257387.1:p.Lys172= |