Linked Data
dbSNP Id:
rs1556673881
gnomAD v2:
X-115304646-T-A
gnomAD v4:
X-116173393-T-A
MyVariant Identifiers:
chrX:g.115304646T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.116173393T>A , CM000685.2:g.116173393T>A | GRCh38 |
| NC_000023.10:g.115304646T>A , CM000685.1:g.115304646T>A | GRCh37 |
| NC_000023.9:g.115218674T>A | NCBI36 |
| NG_016326.1:g.7689T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371906.5:c.*21T>A MANE Select | ENSP00000360973.4:n.*21T>A | |
| ENST00000680409.1:n.1581T>A | ||
| ENST00000371906.4:c.*21T>A | ENSP00000360973.4:n.*21T>A | |
| NM_000686.4:c.*21T>A | NP_000677.2:n.*21T>A | |
| XM_011537533.1:c.*21T>A | XP_011535835.1:n.*21T>A | |
| NM_000686.5:c.*21T>A MANE Select | NP_000677.2:n.*21T>A | |
| NM_001385624.1:c.*21T>A | NP_001372553.1:n.*21T>A |