Linked Data
ClinVar Variation Id:
2203444
dbSNP Id:
rs199691696
ExAC:
X:38144901 C / G
gnomAD v2:
X-38144901-C-G
gnomAD v3:
X-38285648-C-G
gnomAD v4:
X-38285648-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38285648C>G , CM000685.2:g.38285648C>G | GRCh38 |
| NC_000023.10:g.38144901C>G , CM000685.1:g.38144901C>G | GRCh37 |
| NC_000023.9:g.38029845C>G | NCBI36 |
| NG_009553.1:g.46888G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494707.6:c.953+2217G>C | ||
| ENST00000642170.1:n.1826+5311G>C | ||
| ENST00000642395.2:c.1905+1446G>C | ENSP00000493468.2:n.1905+1446G>C | |
| ENST00000642739.1:c.1572+5311G>C | ENSP00000493596.1:n.1572+5311G>C | |
| ENST00000644238.1:c.1386+5311G>C | ENSP00000496728.1:n.1386+5311G>C | |
| ENST00000644337.1:c.1719+1446G>C | ENSP00000494557.1:n.1719+1446G>C | |
| ENST00000645032.1:c.3351G>C MANE Select | ENSP00000495537.1:p.Glu1117Asp | |
| ENST00000645124.1:c.*101+1446G>C | ENSP00000496446.1:n.*101+1446G>C | |
| ENST00000646020.1:c.*594+1446G>C | ENSP00000494745.1:n.*594+1446G>C | |
| ENST00000318842.11:c.1905+1446G>C | ENSP00000322219.6:n.1905+1446G>C | |
| ENST00000339363.7:c.2520+1446G>C | ENSP00000343671.3:n.2520+1446G>C | |
| ENST00000378505.6:c.3351G>C | ENSP00000367766.2:p.Glu1117Asp | |
| ENST00000465127.1:c.172-380473C>G | ENSP00000417050.1:n.172-380473C>G | |
| ENST00000474584.5:c.*37+5311G>C | ENSP00000418926.1:n.*37+5311G>C | |
| ENST00000482855.5:c.1905+1446G>C | ENSP00000419276.1:n.1905+1446G>C | |
| ENST00000494707.5:c.139+5311G>C | ||
| NM_000328.2:c.1905+1446G>C | NP_000319.1:n.1905+1446G>C | |
| NM_001034853.1:c.3351G>C | NP_001030025.1:p.Glu1117Asp | |
| XM_005272633.1:c.1572+5311G>C | XP_005272690.1:n.1572+5311G>C | |
| XM_011543940.1:c.1902+1446G>C | XP_011542242.1:n.1902+1446G>C | |
| XM_005272633.3:c.1572+5311G>C | XP_005272690.1:n.1572+5311G>C | |
| XM_011543940.3:c.1902+1446G>C | XP_011542242.1:n.1902+1446G>C | |
| XM_017029712.2:c.1569+5311G>C | XP_016885201.1:n.1569+5311G>C | |
| NM_001367245.1:c.1902+1446G>C | NP_001354174.1:n.1902+1446G>C | |
| NM_001367246.1:c.1719+1446G>C | NP_001354175.1:n.1719+1446G>C | |
| NM_001367247.1:c.1572+5311G>C | NP_001354176.1:n.1572+5311G>C | |
| NM_001367248.1:c.1602+5311G>C | NP_001354177.1:n.1602+5311G>C | |
| NM_001367249.1:c.1569+5311G>C | NP_001354178.1:n.1569+5311G>C | |
| NM_001367250.1:c.1569+5311G>C | NP_001354179.1:n.1569+5311G>C | |
| NM_001367251.1:c.1386+5311G>C | NP_001354180.1:n.1386+5311G>C | |
| NR_159803.1:n.2263+1446G>C | ||
| NR_159804.1:n.1648+5311G>C | ||
| NR_159805.1:n.1714+5311G>C | ||
| NR_159806.1:n.1866+1446G>C | ||
| NR_159807.1:n.1622+5311G>C | ||
| NR_159808.1:n.1826+5311G>C | ||
| NM_000328.3:c.1905+1446G>C | NP_000319.1:n.1905+1446G>C | |
| NM_001034853.2:c.3351G>C MANE Select | NP_001030025.1:p.Glu1117Asp |