Linked Data
ClinVar Variation Id:
93143
dbSNP Id:
rs185359850
ExAC:
X:76855069 C / A
gnomAD v2:
X-76855069-C-A
gnomAD v3:
X-77599600-C-A
gnomAD v4:
X-77599600-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77599600C>A , CM000685.2:g.77599600C>A | GRCh38 |
| NC_000023.10:g.76855069C>A , CM000685.1:g.76855069C>A | GRCh37 |
| NC_000023.9:g.76741725C>A | NCBI36 |
| NG_008838.2:g.191622G>T | |
| NG_008838.3:g.191670G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.5787-20G>T MANE Select | ENSP00000362441.4:n.5787-20G>T | |
| ENST00000675732.1:c.885-20G>T | ENSP00000502598.1:n.885-20G>T | |
| ENST00000373344.9:c.5787-20G>T | ENSP00000362441.4:n.5787-20G>T | |
| ENST00000395603.7:c.5673-20G>T | ENSP00000378967.3:n.5673-20G>T | |
| ENST00000480283.5:c.*5415-20G>T | ENSP00000480196.1:n.*5415-20G>T | |
| ENST00000623316.1:c.197-20G>T | ||
| NM_000489.4:c.5787-20G>T | NP_000480.3:n.5787-20G>T | |
| NM_138270.3:c.5673-20G>T | NP_612114.2:n.5673-20G>T | |
| XM_005262153.3:c.5784-20G>T | XP_005262210.2:n.5784-20G>T | |
| XM_005262154.3:c.5700-20G>T | XP_005262211.2:n.5700-20G>T | |
| XM_005262155.3:c.5670-20G>T | XP_005262212.2:n.5670-20G>T | |
| XM_005262156.3:c.5622-20G>T | XP_005262213.2:n.5622-20G>T | |
| XM_005262157.3:c.5583-20G>T | XP_005262214.2:n.5583-20G>T | |
| XM_006724666.2:c.5670-20G>T | XP_006724729.1:n.5670-20G>T | |
| XM_006724667.2:c.5508-20G>T | XP_006724730.1:n.5508-20G>T | |
| XR_938400.1:n.6055-20G>T | ||
| NM_000489.5:c.5787-20G>T | NP_000480.3:n.5787-20G>T | |
| XM_005262153.5:c.5784-20G>T | XP_005262210.2:n.5784-20G>T | |
| XM_005262154.5:c.5700-20G>T | XP_005262211.2:n.5700-20G>T | |
| XM_005262155.4:c.5670-20G>T | XP_005262212.2:n.5670-20G>T | |
| XM_005262156.4:c.5622-20G>T | XP_005262213.2:n.5622-20G>T | |
| XM_005262157.5:c.5583-20G>T | XP_005262214.2:n.5583-20G>T | |
| XM_006724666.4:c.5670-20G>T | XP_006724729.1:n.5670-20G>T | |
| XM_006724667.3:c.5508-20G>T | XP_006724730.1:n.5508-20G>T | |
| XM_017029601.2:c.5697-20G>T | XP_016885090.1:n.5697-20G>T | |
| XM_017029602.1:c.5667-20G>T | XP_016885091.1:n.5667-20G>T | |
| XM_017029603.1:c.5619-20G>T | XP_016885092.1:n.5619-20G>T | |
| XM_017029604.2:c.5586-20G>T | XP_016885093.1:n.5586-20G>T | |
| XM_017029605.1:c.5583-20G>T | XP_016885094.1:n.5583-20G>T | |
| XM_017029606.2:c.5556-20G>T | XP_016885095.1:n.5556-20G>T | |
| XM_017029607.2:c.5553-20G>T | XP_016885096.1:n.5553-20G>T | |
| XM_017029608.2:c.5505-20G>T | XP_016885097.1:n.5505-20G>T | |
| XM_017029609.1:c.5469-20G>T | XP_016885098.1:n.5469-20G>T | |
| XM_017029610.1:c.5466-20G>T | XP_016885099.1:n.5466-20G>T | |
| XM_017029611.1:c.5421-20G>T | XP_016885100.1:n.5421-20G>T | |
| XR_001755700.2:n.6012-20G>T | ||
| NM_138270.4:c.5673-20G>T | NP_612114.2:n.5673-20G>T | |
| NM_000489.6:c.5787-20G>T MANE Select | NP_000480.3:n.5787-20G>T | |
| NM_138270.5:c.5673-20G>T | NP_612114.2:n.5673-20G>T |