Linked Data
ClinVar Variation Id:
387600
dbSNP Id:
rs782241890
ExAC:
X:76940462 G / A
gnomAD v2:
X-76940462-G-A
gnomAD v4:
X-77684970-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77684970G>A , CM000685.2:g.77684970G>A | GRCh38 |
| NC_000023.10:g.76940462G>A , CM000685.1:g.76940462G>A | GRCh37 |
| NC_000023.9:g.76827118G>A | NCBI36 |
| NG_008838.2:g.106252C>T | |
| NG_008838.3:g.106300C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.631C>T MANE Select | ENSP00000362441.4:p.Arg211Cys | |
| ENST00000373344.9:c.631C>T | ENSP00000362441.4:p.Arg211Cys | |
| ENST00000395603.7:c.517C>T | ENSP00000378967.3:p.Arg173Cys | |
| ENST00000480283.5:c.*259C>T | ENSP00000480196.1:n.*259C>T | |
| ENST00000623321.3:c.466C>T | ENSP00000485127.1:p.Arg156Cys | |
| ENST00000624032.3:c.631C>T | ENSP00000485253.1:p.Arg211Cys | |
| ENST00000624166.3:c.514C>T | ENSP00000485103.1:p.Arg172Cys | |
| ENST00000625063.3:c.446C>T | ||
| NM_000489.4:c.631C>T | NP_000480.3:p.Arg211Cys | |
| NM_138270.3:c.517C>T | NP_612114.2:p.Arg173Cys | |
| XM_005262153.3:c.628C>T | XP_005262210.2:p.Arg210Cys | |
| XM_005262154.3:c.631C>T | XP_005262211.2:p.Arg211Cys | |
| XM_005262155.3:c.514C>T | XP_005262212.2:p.Arg172Cys | |
| XM_005262156.3:c.466C>T | XP_005262213.2:p.Arg156Cys | |
| XM_005262157.3:c.514C>T | XP_005262214.2:p.Arg172Cys | |
| XM_006724666.2:c.514C>T | XP_006724729.1:p.Arg172Cys | |
| XM_006724667.2:c.352C>T | XP_006724730.1:p.Arg118Cys | |
| XM_006724668.2:c.631C>T | XP_006724731.1:p.Arg211Cys | |
| XR_938400.1:n.899C>T | ||
| NM_000489.5:c.631C>T | NP_000480.3:p.Arg211Cys | |
| XM_005262153.5:c.628C>T | XP_005262210.2:p.Arg210Cys | |
| XM_005262154.5:c.631C>T | XP_005262211.2:p.Arg211Cys | |
| XM_005262155.4:c.514C>T | XP_005262212.2:p.Arg172Cys | |
| XM_005262156.4:c.466C>T | XP_005262213.2:p.Arg156Cys | |
| XM_005262157.5:c.514C>T | XP_005262214.2:p.Arg172Cys | |
| XM_006724666.4:c.514C>T | XP_006724729.1:p.Arg172Cys | |
| XM_006724667.3:c.352C>T | XP_006724730.1:p.Arg118Cys | |
| XM_006724668.3:c.631C>T | XP_006724731.1:p.Arg211Cys | |
| XM_017029601.2:c.628C>T | XP_016885090.1:p.Arg210Cys | |
| XM_017029602.1:c.511C>T | XP_016885091.1:p.Arg171Cys | |
| XM_017029603.1:c.463C>T | XP_016885092.1:p.Arg155Cys | |
| XM_017029604.2:c.517C>T | XP_016885093.1:p.Arg173Cys | |
| XM_017029605.1:c.514C>T | XP_016885094.1:p.Arg172Cys | |
| XM_017029606.2:c.400C>T | XP_016885095.1:p.Arg134Cys | |
| XM_017029607.2:c.397C>T | XP_016885096.1:p.Arg133Cys | |
| XM_017029608.2:c.349C>T | XP_016885097.1:p.Arg117Cys | |
| XM_017029609.1:c.400C>T | XP_016885098.1:p.Arg134Cys | |
| XM_017029610.1:c.397C>T | XP_016885099.1:p.Arg133Cys | |
| XM_017029611.1:c.352C>T | XP_016885100.1:p.Arg118Cys | |
| XR_001755700.2:n.856C>T | ||
| NM_138270.4:c.517C>T | NP_612114.2:p.Arg173Cys | |
| NM_000489.6:c.631C>T MANE Select | NP_000480.3:p.Arg211Cys | |
| NM_138270.5:c.517C>T | NP_612114.2:p.Arg173Cys |