Linked Data
ClinVar Variation Id:
525504
dbSNP Id:
rs769641256
ExAC:
X:38158355 G / C
gnomAD v2:
X-38158355-G-C
gnomAD v3:
X-38299102-G-C
gnomAD v4:
X-38299102-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38299102G>C , CM000685.2:g.38299102G>C | GRCh38 |
| NC_000023.10:g.38158355G>C , CM000685.1:g.38158355G>C | GRCh37 |
| NC_000023.9:g.38043299G>C | NCBI36 |
| NG_009553.1:g.33434C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494707.6:c.303C>G | ||
| ENST00000642170.1:n.1353C>G | ||
| ENST00000642395.2:c.1099C>G | ENSP00000493468.2:p.Pro367Ala | |
| ENST00000642558.1:c.1006C>G | ENSP00000496427.1:p.Pro336Ala | |
| ENST00000642739.1:c.1099C>G | ENSP00000493596.1:p.Pro367Ala | |
| ENST00000644238.1:c.1060-1650C>G | ENSP00000496728.1:n.1060-1650C>G | |
| ENST00000644337.1:c.1060-1650C>G | ENSP00000494557.1:n.1060-1650C>G | |
| ENST00000645032.1:c.1099C>G MANE Select | ENSP00000495537.1:p.Pro367Ala | |
| ENST00000645124.1:c.1099C>G | ENSP00000496446.1:p.Pro367Ala | |
| ENST00000646020.1:c.1159C>G | ENSP00000494745.1:p.Pro387Ala | |
| ENST00000318842.11:c.1099C>G | ENSP00000322219.6:p.Pro367Ala | |
| ENST00000339363.7:c.1099C>G | ENSP00000343671.3:p.Pro367Ala | |
| ENST00000378505.6:c.1099C>G | ENSP00000367766.2:p.Pro367Ala | |
| ENST00000464437.1:c.165C>G | ||
| ENST00000465127.1:c.172-367019G>C | ENSP00000417050.1:n.172-367019G>C | |
| ENST00000474584.5:c.1099C>G | ENSP00000418926.1:p.Pro367Ala | |
| ENST00000482855.5:c.1099C>G | ENSP00000419276.1:p.Pro367Ala | |
| ENST00000494841.1:n.362C>G | ||
| NM_000328.2:c.1099C>G | NP_000319.1:p.Pro367Ala | |
| NM_001034853.1:c.1099C>G | NP_001030025.1:p.Pro367Ala | |
| XM_005272633.1:c.1099C>G | XP_005272690.1:p.Pro367Ala | |
| XM_011543940.1:c.1096C>G | XP_011542242.1:p.Pro366Ala | |
| XM_005272633.3:c.1099C>G | XP_005272690.1:p.Pro367Ala | |
| XM_011543940.3:c.1096C>G | XP_011542242.1:p.Pro366Ala | |
| XM_017029712.2:c.1096C>G | XP_016885201.1:p.Pro366Ala | |
| NM_001367245.1:c.1096C>G | NP_001354174.1:p.Pro366Ala | |
| NM_001367246.1:c.1060-1650C>G | NP_001354175.1:n.1060-1650C>G | |
| NM_001367247.1:c.1099C>G | NP_001354176.1:p.Pro367Ala | |
| NM_001367248.1:c.1129C>G | NP_001354177.1:p.Pro377Ala | |
| NM_001367249.1:c.1096C>G | NP_001354178.1:p.Pro366Ala | |
| NM_001367250.1:c.1096C>G | NP_001354179.1:p.Pro366Ala | |
| NM_001367251.1:c.1060-1650C>G | NP_001354180.1:n.1060-1650C>G | |
| NR_159803.1:n.1301C>G | ||
| NR_159804.1:n.1150C>G | ||
| NR_159805.1:n.1241C>G | ||
| NR_159806.1:n.1241C>G | ||
| NR_159807.1:n.1241C>G | ||
| NR_159808.1:n.1353C>G | ||
| NM_000328.3:c.1099C>G | NP_000319.1:p.Pro367Ala | |
| NM_001034853.2:c.1099C>G MANE Select | NP_001030025.1:p.Pro367Ala |