Linked Data
dbSNP Id:
rs1192083756
gnomAD v3:
X-53382178-T-C
gnomAD v4:
X-53382178-T-C
MyVariant Identifiers:
chrX:g.53382178T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53382178T>C , CM000685.2:g.53382178T>C | GRCh38 |
| NC_000023.10:g.53409099T>C , CM000685.1:g.53409099T>C | GRCh37 |
| NC_000023.9:g.53425824T>C | NCBI36 |
| NG_006988.2:g.45493A>G , LRG_773:g.45493A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.3437+54A>G MANE Select | ENSP00000323421.3:n.3437+54A>G | |
| ENST00000674590.1:c.2669+54A>G | ENSP00000502626.1:n.2669+54A>G | |
| ENST00000675504.1:c.3371+54A>G | ENSP00000502524.1:n.3371+54A>G | |
| ENST00000322213.8:c.3437+54A>G | ENSP00000323421.3:n.3437+54A>G | |
| ENST00000375340.10:c.3371+54A>G | ENSP00000364489.7:n.3371+54A>G | |
| ENST00000469129.1:n.347A>G | ||
| ENST00000470241.2:c.727+54A>G | ||
| NM_001281463.1:c.3371+54A>G , LRG_773t1:c.3371+54A>G | NP_001268392.1:n.3371+54A>G | |
| NM_006306.3:c.3437+54A>G , LRG_773t2:c.3437+54A>G | NP_006297.2:n.3437+54A>G | |
| NM_006306.4:c.3437+54A>G MANE Select | NP_006297.2:n.3437+54A>G |