Linked Data
dbSNP Id:
rs1273424909
gnomAD v3:
X-72579798-C-T
gnomAD v4:
X-72579798-C-T
MyVariant Identifiers:
chrX:g.72579798C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.72579798C>T , CM000685.2:g.72579798C>T | GRCh38 |
| NC_000023.10:g.71799648C>T , CM000685.1:g.71799648C>T | GRCh37 |
| NC_000023.9:g.71716373C>T | NCBI36 |
| NG_016599.1:g.139382G>A | |
| NG_016599.2:g.139384G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373542.9:c.*1204G>A MANE Select | ENSP00000362643.4:n.*1204G>A | |
| ENST00000339490.7:c.*1204G>A | ENSP00000342469.3:n.*1204G>A | |
| ENST00000373542.8:c.*1204G>A | ENSP00000362643.4:n.*1204G>A | |
| ENST00000373545.7:c.*1204G>A | ENSP00000362646.3:n.*1204G>A | |
| ENST00000541944.5:c.*1204G>A | ENSP00000441251.1:n.*1204G>A | |
| NM_001122670.1:c.*1204G>A | NP_001116142.1:n.*1204G>A | |
| NM_001172436.1:c.*1204G>A | NP_001165907.1:n.*1204G>A | |
| NM_002637.3:c.*1204G>A | NP_002628.2:n.*1204G>A | |
| XM_006724661.2:c.*1204G>A | XP_006724724.1:n.*1204G>A | |
| XR_001755696.1:n.5806G>A | ||
| NM_002637.4:c.*1204G>A MANE Select | NP_002628.2:n.*1204G>A | |
| NM_001122670.2:c.*1204G>A | NP_001116142.1:n.*1204G>A | |
| NM_001172436.2:c.*1204G>A | NP_001165907.1:n.*1204G>A |