Linked Data
ClinVar Variation Id:
166712
dbSNP Id:
rs146521598
ExAC:
X:76937467 C / T
gnomAD v2:
X-76937467-C-T
gnomAD v3:
X-77681975-C-T
gnomAD v4:
X-77681975-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77681975C>T , CM000685.2:g.77681975C>T | GRCh38 |
| NC_000023.10:g.76937467C>T , CM000685.1:g.76937467C>T | GRCh37 |
| NC_000023.9:g.76824123C>T | NCBI36 |
| NG_008838.2:g.109247G>A | |
| NG_008838.3:g.109295G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.3281G>A MANE Select | ENSP00000362441.4:p.Cys1094Tyr | |
| ENST00000373344.9:c.3281G>A | ENSP00000362441.4:p.Cys1094Tyr | |
| ENST00000395603.7:c.3167G>A | ENSP00000378967.3:p.Cys1056Tyr | |
| ENST00000480283.5:c.*2909G>A | ENSP00000480196.1:n.*2909G>A | |
| ENST00000493470.2:c.167G>A | ENSP00000485408.1:p.Cys56Tyr | |
| ENST00000624166.3:c.3077G>A | ENSP00000485103.1:p.Cys1026Tyr | |
| NM_000489.4:c.3281G>A | NP_000480.3:p.Cys1094Tyr | |
| NM_138270.3:c.3167G>A | NP_612114.2:p.Cys1056Tyr | |
| XM_005262153.3:c.3278G>A | XP_005262210.2:p.Cys1093Tyr | |
| XM_005262154.3:c.3194G>A | XP_005262211.2:p.Cys1065Tyr | |
| XM_005262155.3:c.3164G>A | XP_005262212.2:p.Cys1055Tyr | |
| XM_005262156.3:c.3116G>A | XP_005262213.2:p.Cys1039Tyr | |
| XM_005262157.3:c.3077G>A | XP_005262214.2:p.Cys1026Tyr | |
| XM_006724666.2:c.3164G>A | XP_006724729.1:p.Cys1055Tyr | |
| XM_006724667.2:c.3002G>A | XP_006724730.1:p.Cys1001Tyr | |
| XM_006724668.2:c.3281G>A | XP_006724731.1:p.Cys1094Tyr | |
| XR_938400.1:n.3549G>A | ||
| NM_000489.5:c.3281G>A | NP_000480.3:p.Cys1094Tyr | |
| XM_005262153.5:c.3278G>A | XP_005262210.2:p.Cys1093Tyr | |
| XM_005262154.5:c.3194G>A | XP_005262211.2:p.Cys1065Tyr | |
| XM_005262155.4:c.3164G>A | XP_005262212.2:p.Cys1055Tyr | |
| XM_005262156.4:c.3116G>A | XP_005262213.2:p.Cys1039Tyr | |
| XM_005262157.5:c.3077G>A | XP_005262214.2:p.Cys1026Tyr | |
| XM_006724666.4:c.3164G>A | XP_006724729.1:p.Cys1055Tyr | |
| XM_006724667.3:c.3002G>A | XP_006724730.1:p.Cys1001Tyr | |
| XM_006724668.3:c.3281G>A | XP_006724731.1:p.Cys1094Tyr | |
| XM_017029601.2:c.3191G>A | XP_016885090.1:p.Cys1064Tyr | |
| XM_017029602.1:c.3161G>A | XP_016885091.1:p.Cys1054Tyr | |
| XM_017029603.1:c.3113G>A | XP_016885092.1:p.Cys1038Tyr | |
| XM_017029604.2:c.3080G>A | XP_016885093.1:p.Cys1027Tyr | |
| XM_017029605.1:c.3077G>A | XP_016885094.1:p.Cys1026Tyr | |
| XM_017029606.2:c.3050G>A | XP_016885095.1:p.Cys1017Tyr | |
| XM_017029607.2:c.3047G>A | XP_016885096.1:p.Cys1016Tyr | |
| XM_017029608.2:c.2999G>A | XP_016885097.1:p.Cys1000Tyr | |
| XM_017029609.1:c.2963G>A | XP_016885098.1:p.Cys988Tyr | |
| XM_017029610.1:c.2960G>A | XP_016885099.1:p.Cys987Tyr | |
| XM_017029611.1:c.2915G>A | XP_016885100.1:p.Cys972Tyr | |
| XR_001755700.2:n.3506G>A | ||
| NM_138270.4:c.3167G>A | NP_612114.2:p.Cys1056Tyr | |
| NM_000489.6:c.3281G>A MANE Select | NP_000480.3:p.Cys1094Tyr | |
| NM_138270.5:c.3167G>A | NP_612114.2:p.Cys1056Tyr |