Linked Data
ClinVar Variation Id:
2881961
ClinVar RCV Id:
RCV003623677
dbSNP Id:
rs782168291
gnomAD v4:
X-72667381-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.72667381G>C , CM000685.2:g.72667381G>C | GRCh38 |
| NC_000023.10:g.71887231G>C , CM000685.1:g.71887231G>C | GRCh37 |
| NC_000023.9:g.71803956G>C | NCBI36 |
| NG_016599.1:g.51799C>G | |
| NG_016599.2:g.51801C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373542.9:c.711C>G MANE Select | ENSP00000362643.4:p.His237Gln | |
| ENST00000339490.7:c.711C>G | ENSP00000342469.3:p.His237Gln | |
| ENST00000373539.3:c.711C>G | ENSP00000362640.3:p.His237Gln | |
| ENST00000373542.8:c.711C>G | ENSP00000362643.4:p.His237Gln | |
| ENST00000373545.7:c.711C>G | ENSP00000362646.3:p.His237Gln | |
| ENST00000541944.5:c.711C>G | ENSP00000441251.1:p.His237Gln | |
| NM_001122670.1:c.711C>G | NP_001116142.1:p.His237Gln | |
| NM_001172436.1:c.711C>G | NP_001165907.1:p.His237Gln | |
| NM_002637.3:c.711C>G | NP_002628.2:p.His237Gln | |
| XM_006724661.2:c.711C>G | XP_006724724.1:p.His237Gln | |
| XR_001755696.1:n.854C>G | ||
| NM_002637.4:c.711C>G MANE Select | NP_002628.2:p.His237Gln | |
| NM_001122670.2:c.711C>G | NP_001116142.1:p.His237Gln | |
| NM_001172436.2:c.711C>G | NP_001165907.1:p.His237Gln |