Linked Data
dbSNP Id:
rs1440991565
gnomAD v3:
X-49213906-C-A
gnomAD v4:
X-49213906-C-A
MyVariant Identifiers:
chrX:g.49213906C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49213906C>A , CM000685.2:g.49213906C>A | GRCh38 |
| NC_000023.10:g.49070366C>A , CM000685.1:g.49070366C>A | GRCh37 |
| NC_000023.9:g.48957310C>A | NCBI36 |
| NG_009095.2:g.24461G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.3709-4G>T MANE Select | ENSP00000321618.6:n.3709-4G>T | |
| ENST00000323022.9:c.3709-4G>T | ENSP00000321618.5:n.3709-4G>T | |
| ENST00000376251.5:c.3547-4G>T | ENSP00000365427.1:n.3547-4G>T | |
| ENST00000376265.2:c.3742-4G>T | ENSP00000365441.2:n.3742-4G>T | |
| NM_001256789.2:c.3709-4G>T | NP_001243718.1:n.3709-4G>T | |
| NM_001256790.2:c.3547-4G>T | NP_001243719.1:n.3547-4G>T | |
| NM_005183.3:c.3742-4G>T | NP_005174.2:n.3742-4G>T | |
| XM_011543983.1:c.3547-4G>T | XP_011542285.1:n.3547-4G>T | |
| XM_011543983.2:c.3547-4G>T | XP_011542285.1:n.3547-4G>T | |
| XM_017029836.1:c.976-4G>T | XP_016885325.1:n.976-4G>T | |
| NM_001256789.3:c.3709-4G>T MANE Select | NP_001243718.1:n.3709-4G>T | |
| NM_001256790.3:c.3547-4G>T | NP_001243719.1:n.3547-4G>T | |
| NM_005183.4:c.3742-4G>T | NP_005174.2:n.3742-4G>T |