Linked Data
ClinVar Variation Id:
386506
dbSNP Id:
rs367870900
ExAC:
X:74280151 G / C
gnomAD v2:
X-74280151-G-C
gnomAD v3:
X-75060316-G-C
gnomAD v4:
X-75060316-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.75060316G>C , CM000685.2:g.75060316G>C | GRCh38 |
| NC_000023.10:g.74280151G>C , CM000685.1:g.74280151G>C | GRCh37 |
| NC_000023.9:g.74196876G>C | NCBI36 |
| NG_007980.1:g.100982C>G | |
| NG_007980.3:g.100968C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253577.9:c.1953C>G | ENSP00000253577.3:p.Ala651= | |
| ENST00000373394.8:c.1950C>G MANE Select | ENSP00000362492.3:p.Ala650= | |
| ENST00000620875.5:c.1833C>G | ENSP00000479985.1:p.Ala611= | |
| ENST00000644766.1:c.1939-48C>G | ENSP00000493713.1:n.1939-48C>G | |
| ENST00000645829.3:c.1965C>G | ENSP00000496526.2:p.Ala655= | |
| ENST00000663420.1:n.1870C>G | ||
| ENST00000666534.1:n.1840C>G | ||
| ENST00000669573.1:c.1773C>G | ENSP00000499543.1:p.Ala591= | |
| ENST00000253577.7:c.1953C>G | ENSP00000253577.3:p.Ala651= | |
| ENST00000339447.8:c.1830C>G | ENSP00000343849.4:p.Ala610= | |
| ENST00000373394.7:c.1950C>G | ENSP00000362492.3:p.Ala650= | |
| ENST00000490858.1:n.315C>G | ||
| ENST00000529949.5:c.1872C>G | ENSP00000436586.1:p.Ala624= | |
| ENST00000620875.4:c.1833C>G | ENSP00000479985.1:p.Ala611= | |
| NM_001271696.1:c.1950C>G | NP_001258625.1:p.Ala650= | |
| NM_001271697.1:c.1830C>G | NP_001258626.1:p.Ala610= | |
| NM_001271698.1:c.1872C>G | NP_001258627.1:p.Ala624= | |
| NM_001271699.1:c.1833C>G | NP_001258628.1:p.Ala611= | |
| NM_004299.4:c.1953C>G | NP_004290.2:p.Ala651= | |
| NM_001271696.2:c.1950C>G | NP_001258625.1:p.Ala650= | |
| NM_001271697.2:c.1830C>G | NP_001258626.1:p.Ala610= | |
| NM_001271698.2:c.1872C>G | NP_001258627.1:p.Ala624= | |
| NM_001271699.2:c.1833C>G | NP_001258628.1:p.Ala611= | |
| NM_004299.6:c.1953C>G | NP_004290.2:p.Ala651= | |
| NM_001271696.3:c.1950C>G MANE Select | NP_001258625.1:p.Ala650= | |
| NM_001271697.3:c.1830C>G | NP_001258626.1:p.Ala610= | |
| NM_001271698.3:c.1872C>G | NP_001258627.1:p.Ala624= | |
| NM_001271699.3:c.1833C>G | NP_001258628.1:p.Ala611= |