Linked Data
ClinVar Variation Id:
441083
ClinVar RCV Id:
RCV000509430
dbSNP Id:
rs758595312
ExAC:
X:56292180 A / G
gnomAD v2:
X-56292180-A-G
gnomAD v3:
X-56265747-A-G
gnomAD v4:
X-56265747-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.56265747A>G , CM000685.2:g.56265747A>G | GRCh38 |
| NC_000023.10:g.56292180A>G , CM000685.1:g.56292180A>G | GRCh37 |
| NC_000023.9:g.56308905A>G | NCBI36 |
| NG_011949.1:g.38359A>G | |
| NG_011949.2:g.362625A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000468660.6:c.646+3A>G MANE Select | ENSP00000417303.1:n.646+3A>G | |
| ENST00000640927.1:c.631+3A>G | ENSP00000492126.1:n.631+3A>G | |
| ENST00000358094.7:c.646+3A>G | ENSP00000431911.1:n.646+3A>G | |
| ENST00000374928.7:c.646+3A>G | ENSP00000364063.3:n.646+3A>G | |
| ENST00000462627.5:n.1510A>G | ||
| ENST00000468660.5:c.646+3A>G | ENSP00000417303.1:n.646+3A>G | |
| ENST00000476898.1:n.1489A>G | ||
| ENST00000635281.1:c.631+3A>G | ENSP00000489260.1:n.631+3A>G | |
| NM_001159296.1:c.646+3A>G | NP_001152768.1:n.646+3A>G | |
| NM_007250.4:c.646+3A>G | NP_009181.2:n.646+3A>G | |
| XM_005261977.1:c.646+3A>G | XP_005262034.1:n.646+3A>G | |
| XM_005261978.2:c.646+3A>G | XP_005262035.1:n.646+3A>G | |
| XM_005261979.2:c.646+3A>G | XP_005262036.1:n.646+3A>G | |
| XM_006724575.2:c.646+3A>G | XP_006724638.1:n.646+3A>G | |
| XM_006724576.2:c.646+3A>G | XP_006724639.1:n.646+3A>G | |
| XM_011530759.1:c.631+3A>G | XP_011529061.1:n.631+3A>G | |
| XM_011530760.1:c.631+3A>G | XP_011529062.1:n.631+3A>G | |
| NM_001159296.2:c.646+3A>G | NP_001152768.1:n.646+3A>G | |
| NM_001324099.1:c.631+3A>G | NP_001311028.1:n.631+3A>G | |
| NM_001324100.1:c.646+3A>G | NP_001311029.1:n.646+3A>G | |
| NM_001324102.1:c.646+3A>G | NP_001311031.1:n.646+3A>G | |
| NM_001324104.1:c.661+3A>G | NP_001311033.1:n.661+3A>G | |
| NM_001324105.1:c.637+3A>G | NP_001311034.1:n.637+3A>G | |
| NM_007250.5:c.646+3A>G MANE Select | NP_009181.2:n.646+3A>G | |
| NR_136704.1:n.823+3A>G | ||
| NR_136705.1:n.1628A>G | ||
| XM_005261977.3:c.646+3A>G | XP_005262034.1:n.646+3A>G | |
| XM_011530759.2:c.631+3A>G | XP_011529061.1:n.631+3A>G | |
| XM_017029250.2:c.631+3A>G | XP_016884739.1:n.631+3A>G | |
| XM_024452332.1:c.646+3A>G | XP_024308100.1:n.646+3A>G |