Linked Data
dbSNP Id:
rs2075688382
gnomAD v4:
X-53405598-T-C
MyVariant Identifiers:
chrX:g.53432530T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53405598T>C , CM000685.2:g.53405598T>C | GRCh38 |
| NC_000023.10:g.53432530T>C , CM000685.1:g.53432530T>C | GRCh37 |
| NC_000023.9:g.53449255T>C | NCBI36 |
| NG_006988.2:g.22073A>G , LRG_773:g.22073A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.1806A>G MANE Select | ENSP00000323421.3:p.Pro602= | |
| ENST00000674590.1:c.1038A>G | ENSP00000502626.1:p.Pro346= | |
| ENST00000675065.1:n.1158A>G | ||
| ENST00000675504.1:c.1740A>G | ENSP00000502524.1:p.Pro580= | |
| ENST00000322213.8:c.1806A>G | ENSP00000323421.3:p.Pro602= | |
| ENST00000375340.10:c.1740A>G | ENSP00000364489.7:p.Pro580= | |
| NM_001281463.1:c.1740A>G , LRG_773t1:c.1740A>G | NP_001268392.1:p.Pro580= | |
| NM_006306.3:c.1806A>G , LRG_773t2:c.1806A>G | NP_006297.2:p.Pro602= | |
| NM_006306.4:c.1806A>G MANE Select | NP_006297.2:p.Pro602= |