Linked Data
dbSNP Id:
rs778847041
ExAC:
X:40996146 C / G
gnomAD v2:
X-40996146-C-G
gnomAD v4:
X-41136893-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41136893C>G , CM000685.2:g.41136893C>G | GRCh38 |
| NC_000023.10:g.40996146C>G , CM000685.1:g.40996146C>G | GRCh37 |
| NC_000023.9:g.40881090C>G | NCBI36 |
| NG_012547.1:g.56259C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703986.1:c.525C>G | ENSP00000515603.1:p.Ala175= | |
| ENST00000703987.1:c.525C>G | ENSP00000515604.1:p.Ala175= | |
| ENST00000704649.1:c.525C>G | ENSP00000515974.1:p.Ala175= | |
| ENST00000704650.1:c.525C>G | ENSP00000515975.1:p.Ala175= | |
| ENST00000704651.1:c.525C>G | ENSP00000515976.1:p.Ala175= | |
| ENST00000324545.9:c.525C>G | ENSP00000316357.6:p.Ala175= | |
| ENST00000378308.7:c.525C>G MANE Select | ENSP00000367558.2:p.Ala175= | |
| ENST00000324545.8:c.525C>G | ENSP00000316357.6:p.Ala175= | |
| ENST00000378308.6:c.525C>G | ENSP00000367558.2:p.Ala175= | |
| NM_001039590.2:c.525C>G | NP_001034679.2:p.Ala175= | |
| NM_001039591.2:c.525C>G | NP_001034680.2:p.Ala175= | |
| XM_005272675.3:c.525C>G | XP_005272732.1:p.Ala175= | |
| XM_005272676.3:c.525C>G | XP_005272733.1:p.Ala175= | |
| XM_005272675.4:c.525C>G | XP_005272732.1:p.Ala175= | |
| XM_005272676.4:c.525C>G | XP_005272733.1:p.Ala175= | |
| NM_001039591.3:c.525C>G MANE Select | NP_001034680.2:p.Ala175= | |
| NM_001039590.3:c.525C>G | NP_001034679.2:p.Ala175= |