Linked Data
dbSNP Id:
rs104894951
ExAC:
X:38535032 C / G
gnomAD v2:
X-38535032-C-G
gnomAD v4:
X-38675778-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675778C>G , CM000685.2:g.38675778C>G | GRCh38 |
| NC_000023.10:g.38535032C>G , CM000685.1:g.38535032C>G | GRCh37 |
| NC_000023.9:g.38419976C>G | NCBI36 |
| NG_009160.1:g.119302C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378482.7:c.515C>G MANE Select | ENSP00000367743.2:p.Pro172Arg | |
| ENST00000286824.6:c.566C>G | ENSP00000286824.6:p.Pro189Arg | |
| ENST00000378482.6:c.515C>G | ENSP00000367743.2:p.Pro172Arg | |
| ENST00000419600.3:n.459C>G | ||
| ENST00000465127.1:c.605C>G | ENSP00000417050.1:p.Pro202Arg | |
| ENST00000471410.5:c.*541C>G | ENSP00000419290.1:n.*541C>G | |
| ENST00000475216.5:c.*508C>G | ENSP00000418586.1:n.*508C>G | |
| ENST00000488893.5:n.698C>G | ||
| NM_004615.3:c.515C>G | NP_004606.2:p.Pro172Arg | |
| NM_004615.4:c.515C>G MANE Select | NP_004606.2:p.Pro172Arg |