Linked Data
ClinVar Variation Id:
419218
ClinVar RCV Id:
RCV000482744
dbSNP Id:
rs1064793729
gnomAD v4:
X-21606880-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21606880G>A , CM000685.2:g.21606880G>A | GRCh38 |
| NC_000023.10:g.21624998G>A , CM000685.1:g.21624998G>A | GRCh37 |
| NC_000023.9:g.21534919G>A | NCBI36 |
| NG_016266.1:g.237463G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000279451.9:c.2055+1G>A | ENSP00000279451.5:n.2055+1G>A | |
| ENST00000379510.5:c.2145+1G>A MANE Select | ENSP00000368824.3:n.2145+1G>A | |
| ENST00000425654.7:c.2055+1G>A | ENSP00000397906.2:n.2055+1G>A | |
| ENST00000543067.6:c.1998+1G>A | ENSP00000444633.1:n.1998+1G>A | |
| ENST00000642359.1:c.2145+1G>A | ENSP00000496709.1:n.2145+1G>A | |
| ENST00000642501.1:c.1224+1G>A | ENSP00000495189.1:n.1224+1G>A | |
| ENST00000642853.1:n.1923+1G>A | ||
| ENST00000643156.1:c.977+1G>A | ||
| ENST00000643171.1:c.1998+1G>A | ENSP00000496186.1:n.1998+1G>A | |
| ENST00000643220.1:c.1896+1G>A | ENSP00000495012.1:n.1896+1G>A | |
| ENST00000643313.1:c.1297+1G>A | ||
| ENST00000644075.1:n.1511+1G>A | ||
| ENST00000644095.1:c.1998+1G>A | ENSP00000496088.1:n.1998+1G>A | |
| ENST00000644295.1:c.2070+1G>A | ENSP00000495501.1:n.2070+1G>A | |
| ENST00000644585.1:c.1998+1G>A | ENSP00000495954.1:n.1998+1G>A | |
| ENST00000645074.1:c.1494+1G>A | ENSP00000496573.1:n.1494+1G>A | |
| ENST00000645245.1:c.1908+1G>A | ENSP00000495695.1:n.1908+1G>A | |
| ENST00000645539.1:n.342+1G>A | ||
| ENST00000645791.1:c.1908+1G>A | ENSP00000494906.1:n.1908+1G>A | |
| ENST00000646690.1:n.153+1G>A | ||
| ENST00000646697.1:c.2161+1G>A | ||
| ENST00000647058.1:n.694+1G>A | ||
| ENST00000647349.1:n.1449+1G>A | ||
| ENST00000647532.1:n.5904+1G>A | ||
| ENST00000279451.8:c.2145+1G>A | ENSP00000279451.4:n.2145+1G>A | |
| ENST00000379510.3:c.2145+1G>A | ENSP00000368824.3:n.2145+1G>A | |
| ENST00000425654.6:c.2055+1G>A | ENSP00000397906.2:n.2055+1G>A | |
| ENST00000543067.5:c.1998+1G>A | ENSP00000444633.1:n.1998+1G>A | |
| NM_001168647.1:c.2055+1G>A | NP_001162118.1:n.2055+1G>A | |
| NM_001168648.1:c.2145+1G>A | NP_001162119.1:n.2145+1G>A | |
| NM_001168649.1:c.1998+1G>A | NP_001162120.1:n.1998+1G>A | |
| NM_014927.3:c.2145+1G>A | NP_055742.2:n.2145+1G>A | |
| XM_011545471.1:c.2055+1G>A | XP_011543773.1:n.2055+1G>A | |
| XM_011545472.1:c.1998+1G>A | XP_011543774.1:n.1998+1G>A | |
| NM_001168647.2:c.2055+1G>A | NP_001162118.1:n.2055+1G>A | |
| NM_001168648.2:c.2145+1G>A | NP_001162119.1:n.2145+1G>A | |
| NM_001168649.2:c.1998+1G>A | NP_001162120.1:n.1998+1G>A | |
| NM_001330770.1:c.1998+1G>A | NP_001317699.1:n.1998+1G>A | |
| NM_001330771.1:c.1908+1G>A | NP_001317700.1:n.1908+1G>A | |
| NM_001330772.1:c.1908+1G>A | NP_001317701.1:n.1908+1G>A | |
| NM_001330773.1:c.2055+1G>A | NP_001317702.1:n.2055+1G>A | |
| NM_014927.4:c.2145+1G>A | NP_055742.2:n.2145+1G>A | |
| XM_011545471.3:c.2055+1G>A | XP_011543773.1:n.2055+1G>A | |
| XM_011545472.3:c.1998+1G>A | XP_011543774.1:n.1998+1G>A | |
| XM_017029358.2:c.1908+1G>A | XP_016884847.1:n.1908+1G>A | |
| NM_014927.5:c.2145+1G>A MANE Select | NP_055742.2:n.2145+1G>A | |
| NM_001168647.3:c.2055+1G>A | NP_001162118.1:n.2055+1G>A | |
| NM_001168648.3:c.2145+1G>A | NP_001162119.1:n.2145+1G>A | |
| NM_001168649.3:c.1998+1G>A | NP_001162120.1:n.1998+1G>A | |
| NM_001330770.2:c.1998+1G>A | NP_001317699.1:n.1998+1G>A | |
| NM_001330771.2:c.1908+1G>A | NP_001317700.1:n.1908+1G>A | |
| NM_001330772.2:c.1908+1G>A | NP_001317701.1:n.1908+1G>A | |
| NM_001330773.2:c.2055+1G>A | NP_001317702.1:n.2055+1G>A |