Linked Data
gnomAD v3:
X-53380674-A-G
gnomAD v4:
X-53380674-A-G
MyVariant Identifiers:
chrX:g.53407595A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53380674A>G , CM000685.2:g.53380674A>G | GRCh38 |
| NC_000023.10:g.53407595A>G , CM000685.1:g.53407595A>G | GRCh37 |
| NC_000023.9:g.53424320A>G | NCBI36 |
| NG_006988.2:g.46997T>C , LRG_773:g.46997T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.3564T>C MANE Select | ENSP00000323421.3:p.Ser1188= | |
| ENST00000674590.1:c.2796T>C | ENSP00000502626.1:p.Ser932= | |
| ENST00000675504.1:c.3498T>C | ENSP00000502524.1:p.Ser1166= | |
| ENST00000322213.8:c.3564T>C | ENSP00000323421.3:p.Ser1188= | |
| ENST00000375340.10:c.3498T>C | ENSP00000364489.7:p.Ser1166= | |
| ENST00000470241.2:c.784T>C | ||
| NM_001281463.1:c.3498T>C , LRG_773t1:c.3498T>C | NP_001268392.1:p.Ser1166= | |
| NM_006306.3:c.3564T>C , LRG_773t2:c.3564T>C | NP_006297.2:p.Ser1188= | |
| NM_006306.4:c.3564T>C MANE Select | NP_006297.2:p.Ser1188= |