Linked Data
ClinVar Variation Id:
499933
dbSNP Id:
rs782317502
ExAC:
X:76764111 T / C
gnomAD v2:
X-76764111-T-C
gnomAD v3:
X-77508633-T-C
gnomAD v4:
X-77508633-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77508633T>C , CM000685.2:g.77508633T>C | GRCh38 |
| NC_000023.10:g.76764111T>C , CM000685.1:g.76764111T>C | GRCh37 |
| NC_000023.9:g.76650767T>C | NCBI36 |
| NG_008838.2:g.282589A>G | |
| NG_008838.3:g.282637A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.7201-4A>G MANE Select | ENSP00000362441.4:n.7201-4A>G | |
| ENST00000675732.1:c.2299-4A>G | ENSP00000502598.1:n.2299-4A>G | |
| ENST00000373344.9:c.7201-4A>G | ENSP00000362441.4:n.7201-4A>G | |
| ENST00000395603.7:c.7087-4A>G | ENSP00000378967.3:n.7087-4A>G | |
| ENST00000480283.5:c.*6829-4A>G | ENSP00000480196.1:n.*6829-4A>G | |
| ENST00000623706.3:n.5521-4A>G | ||
| ENST00000624766.1:n.432-4A>G | ||
| NM_000489.4:c.7201-4A>G | NP_000480.3:n.7201-4A>G | |
| NM_138270.3:c.7087-4A>G | NP_612114.2:n.7087-4A>G | |
| XM_005262153.3:c.7198-4A>G | XP_005262210.2:n.7198-4A>G | |
| XM_005262154.3:c.7114-4A>G | XP_005262211.2:n.7114-4A>G | |
| XM_005262155.3:c.7084-4A>G | XP_005262212.2:n.7084-4A>G | |
| XM_005262156.3:c.7036-4A>G | XP_005262213.2:n.7036-4A>G | |
| XM_005262157.3:c.6997-4A>G | XP_005262214.2:n.6997-4A>G | |
| XM_006724666.2:c.7084-4A>G | XP_006724729.1:n.7084-4A>G | |
| XM_006724667.2:c.6922-4A>G | XP_006724730.1:n.6922-4A>G | |
| XR_938400.1:n.8793-4A>G | ||
| NM_000489.5:c.7201-4A>G | NP_000480.3:n.7201-4A>G | |
| XM_005262153.5:c.7198-4A>G | XP_005262210.2:n.7198-4A>G | |
| XM_005262154.5:c.7114-4A>G | XP_005262211.2:n.7114-4A>G | |
| XM_005262155.4:c.7084-4A>G | XP_005262212.2:n.7084-4A>G | |
| XM_005262156.4:c.7036-4A>G | XP_005262213.2:n.7036-4A>G | |
| XM_005262157.5:c.6997-4A>G | XP_005262214.2:n.6997-4A>G | |
| XM_006724666.4:c.7084-4A>G | XP_006724729.1:n.7084-4A>G | |
| XM_006724667.3:c.6922-4A>G | XP_006724730.1:n.6922-4A>G | |
| XM_017029601.2:c.7111-4A>G | XP_016885090.1:n.7111-4A>G | |
| XM_017029602.1:c.7081-4A>G | XP_016885091.1:n.7081-4A>G | |
| XM_017029603.1:c.7033-4A>G | XP_016885092.1:n.7033-4A>G | |
| XM_017029604.2:c.7000-4A>G | XP_016885093.1:n.7000-4A>G | |
| XM_017029605.1:c.6997-4A>G | XP_016885094.1:n.6997-4A>G | |
| XM_017029606.2:c.6970-4A>G | XP_016885095.1:n.6970-4A>G | |
| XM_017029607.2:c.6967-4A>G | XP_016885096.1:n.6967-4A>G | |
| XM_017029608.2:c.6919-4A>G | XP_016885097.1:n.6919-4A>G | |
| XM_017029609.1:c.6883-4A>G | XP_016885098.1:n.6883-4A>G | |
| XM_017029610.1:c.6880-4A>G | XP_016885099.1:n.6880-4A>G | |
| XM_017029611.1:c.6835-4A>G | XP_016885100.1:n.6835-4A>G | |
| XR_001755700.2:n.7500-4A>G | ||
| NM_138270.4:c.7087-4A>G | NP_612114.2:n.7087-4A>G | |
| NM_000489.6:c.7201-4A>G MANE Select | NP_000480.3:n.7201-4A>G | |
| NM_138270.5:c.7087-4A>G | NP_612114.2:n.7087-4A>G |