Identifiers and link-outs to other resources
ClinVar Variation Id:
10422
dbSNP Id:
rs72554665
ExAC:
X:153760484 C / G
gnomAD:
X:153760484 C / G
User contributed link-outs
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154532269C>G , CM000685.2:g.154532269C>G | GRCh38 |
| NC_000023.10:g.153760484C>G , CM000685.1:g.153760484C>G | GRCh37 |
| NC_000023.9:g.153413678C>G | NCBI36 |
| NG_009015.2:g.20304G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_000402.4:c.1466G>C VV | NP_000393.4:p.Arg489Pro | |
| NM_001042351.2:c.1376G>C VV | NP_001035810.1:p.Arg459Pro | |
| XM_005274657.2:c.1469G>C | XP_005274714.1:p.Arg490Pro | |
| XM_005274658.2:c.1379G>C | XP_005274715.1:p.Arg460Pro | |
| NM_001360016.2:c.1376G>C VV MANE Preferred | NP_001346945.1:p.Arg459Pro | |
| NM_001042351.3:c.1376G>C VV | NP_001035810.1:p.Arg459Pro | |
| ENST00000369620.6:c.1514G>C | ENSP00000358633.2:p.Arg505Pro | |
| ENST00000393562.6:c.1466G>C | ENSP00000377192.2:p.Arg489Pro | |
| ENST00000393564.6:c.1376G>C | ENSP00000377194.2:p.Arg459Pro | |
| ENST00000490651.1:n.597G>C | ||
| ENST00000621232.4:c.1376G>C | ENSP00000483686.1:p.Arg459Pro |