Linked Data
ClinVar Variation Id:
465052
dbSNP Id:
rs143621153
ExAC:
X:76937537 C / T
gnomAD v2:
X-76937537-C-T
gnomAD v3:
X-77682045-C-T
gnomAD v4:
X-77682045-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77682045C>T , CM000685.2:g.77682045C>T | GRCh38 |
| NC_000023.10:g.76937537C>T , CM000685.1:g.76937537C>T | GRCh37 |
| NC_000023.9:g.76824193C>T | NCBI36 |
| NG_008838.2:g.109177G>A | |
| NG_008838.3:g.109225G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.3211G>A MANE Select | ENSP00000362441.4:p.Gly1071Arg | |
| ENST00000373344.9:c.3211G>A | ENSP00000362441.4:p.Gly1071Arg | |
| ENST00000395603.7:c.3097G>A | ENSP00000378967.3:p.Gly1033Arg | |
| ENST00000480283.5:c.*2839G>A | ENSP00000480196.1:n.*2839G>A | |
| ENST00000493470.2:c.97G>A | ENSP00000485408.1:p.Gly33Arg | |
| ENST00000624166.3:c.3007G>A | ENSP00000485103.1:p.Gly1003Arg | |
| NM_000489.4:c.3211G>A | NP_000480.3:p.Gly1071Arg | |
| NM_138270.3:c.3097G>A | NP_612114.2:p.Gly1033Arg | |
| XM_005262153.3:c.3208G>A | XP_005262210.2:p.Gly1070Arg | |
| XM_005262154.3:c.3124G>A | XP_005262211.2:p.Gly1042Arg | |
| XM_005262155.3:c.3094G>A | XP_005262212.2:p.Gly1032Arg | |
| XM_005262156.3:c.3046G>A | XP_005262213.2:p.Gly1016Arg | |
| XM_005262157.3:c.3007G>A | XP_005262214.2:p.Gly1003Arg | |
| XM_006724666.2:c.3094G>A | XP_006724729.1:p.Gly1032Arg | |
| XM_006724667.2:c.2932G>A | XP_006724730.1:p.Gly978Arg | |
| XM_006724668.2:c.3211G>A | XP_006724731.1:p.Gly1071Arg | |
| XR_938400.1:n.3479G>A | ||
| NM_000489.5:c.3211G>A | NP_000480.3:p.Gly1071Arg | |
| XM_005262153.5:c.3208G>A | XP_005262210.2:p.Gly1070Arg | |
| XM_005262154.5:c.3124G>A | XP_005262211.2:p.Gly1042Arg | |
| XM_005262155.4:c.3094G>A | XP_005262212.2:p.Gly1032Arg | |
| XM_005262156.4:c.3046G>A | XP_005262213.2:p.Gly1016Arg | |
| XM_005262157.5:c.3007G>A | XP_005262214.2:p.Gly1003Arg | |
| XM_006724666.4:c.3094G>A | XP_006724729.1:p.Gly1032Arg | |
| XM_006724667.3:c.2932G>A | XP_006724730.1:p.Gly978Arg | |
| XM_006724668.3:c.3211G>A | XP_006724731.1:p.Gly1071Arg | |
| XM_017029601.2:c.3121G>A | XP_016885090.1:p.Gly1041Arg | |
| XM_017029602.1:c.3091G>A | XP_016885091.1:p.Gly1031Arg | |
| XM_017029603.1:c.3043G>A | XP_016885092.1:p.Gly1015Arg | |
| XM_017029604.2:c.3010G>A | XP_016885093.1:p.Gly1004Arg | |
| XM_017029605.1:c.3007G>A | XP_016885094.1:p.Gly1003Arg | |
| XM_017029606.2:c.2980G>A | XP_016885095.1:p.Gly994Arg | |
| XM_017029607.2:c.2977G>A | XP_016885096.1:p.Gly993Arg | |
| XM_017029608.2:c.2929G>A | XP_016885097.1:p.Gly977Arg | |
| XM_017029609.1:c.2893G>A | XP_016885098.1:p.Gly965Arg | |
| XM_017029610.1:c.2890G>A | XP_016885099.1:p.Gly964Arg | |
| XM_017029611.1:c.2845G>A | XP_016885100.1:p.Gly949Arg | |
| XR_001755700.2:n.3436G>A | ||
| NM_138270.4:c.3097G>A | NP_612114.2:p.Gly1033Arg | |
| NM_000489.6:c.3211G>A MANE Select | NP_000480.3:p.Gly1071Arg | |
| NM_138270.5:c.3097G>A | NP_612114.2:p.Gly1033Arg |