Linked Data
ClinVar Variation Id:
1342508
dbSNP Id:
rs782073135
ExAC:
X:76937296 C / G
gnomAD v2:
X-76937296-C-G
gnomAD v4:
X-77681804-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77681804C>G , CM000685.2:g.77681804C>G | GRCh38 |
| NC_000023.10:g.76937296C>G , CM000685.1:g.76937296C>G | GRCh37 |
| NC_000023.9:g.76823952C>G | NCBI36 |
| NG_008838.2:g.109418G>C | |
| NG_008838.3:g.109466G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.3452G>C MANE Select | ENSP00000362441.4:p.Ser1151Thr | |
| ENST00000373344.9:c.3452G>C | ENSP00000362441.4:p.Ser1151Thr | |
| ENST00000395603.7:c.3338G>C | ENSP00000378967.3:p.Ser1113Thr | |
| ENST00000480283.5:c.*3080G>C | ENSP00000480196.1:n.*3080G>C | |
| ENST00000493470.2:c.338G>C | ENSP00000485408.1:p.Ser113Thr | |
| ENST00000624166.3:c.3248G>C | ENSP00000485103.1:p.Ser1083Thr | |
| NM_000489.4:c.3452G>C | NP_000480.3:p.Ser1151Thr | |
| NM_138270.3:c.3338G>C | NP_612114.2:p.Ser1113Thr | |
| XM_005262153.3:c.3449G>C | XP_005262210.2:p.Ser1150Thr | |
| XM_005262154.3:c.3365G>C | XP_005262211.2:p.Ser1122Thr | |
| XM_005262155.3:c.3335G>C | XP_005262212.2:p.Ser1112Thr | |
| XM_005262156.3:c.3287G>C | XP_005262213.2:p.Ser1096Thr | |
| XM_005262157.3:c.3248G>C | XP_005262214.2:p.Ser1083Thr | |
| XM_006724666.2:c.3335G>C | XP_006724729.1:p.Ser1112Thr | |
| XM_006724667.2:c.3173G>C | XP_006724730.1:p.Ser1058Thr | |
| XM_006724668.2:c.3452G>C | XP_006724731.1:p.Ser1151Thr | |
| XR_938400.1:n.3720G>C | ||
| NM_000489.5:c.3452G>C | NP_000480.3:p.Ser1151Thr | |
| XM_005262153.5:c.3449G>C | XP_005262210.2:p.Ser1150Thr | |
| XM_005262154.5:c.3365G>C | XP_005262211.2:p.Ser1122Thr | |
| XM_005262155.4:c.3335G>C | XP_005262212.2:p.Ser1112Thr | |
| XM_005262156.4:c.3287G>C | XP_005262213.2:p.Ser1096Thr | |
| XM_005262157.5:c.3248G>C | XP_005262214.2:p.Ser1083Thr | |
| XM_006724666.4:c.3335G>C | XP_006724729.1:p.Ser1112Thr | |
| XM_006724667.3:c.3173G>C | XP_006724730.1:p.Ser1058Thr | |
| XM_006724668.3:c.3452G>C | XP_006724731.1:p.Ser1151Thr | |
| XM_017029601.2:c.3362G>C | XP_016885090.1:p.Ser1121Thr | |
| XM_017029602.1:c.3332G>C | XP_016885091.1:p.Ser1111Thr | |
| XM_017029603.1:c.3284G>C | XP_016885092.1:p.Ser1095Thr | |
| XM_017029604.2:c.3251G>C | XP_016885093.1:p.Ser1084Thr | |
| XM_017029605.1:c.3248G>C | XP_016885094.1:p.Ser1083Thr | |
| XM_017029606.2:c.3221G>C | XP_016885095.1:p.Ser1074Thr | |
| XM_017029607.2:c.3218G>C | XP_016885096.1:p.Ser1073Thr | |
| XM_017029608.2:c.3170G>C | XP_016885097.1:p.Ser1057Thr | |
| XM_017029609.1:c.3134G>C | XP_016885098.1:p.Ser1045Thr | |
| XM_017029610.1:c.3131G>C | XP_016885099.1:p.Ser1044Thr | |
| XM_017029611.1:c.3086G>C | XP_016885100.1:p.Ser1029Thr | |
| XR_001755700.2:n.3677G>C | ||
| NM_138270.4:c.3338G>C | NP_612114.2:p.Ser1113Thr | |
| NM_000489.6:c.3452G>C MANE Select | NP_000480.3:p.Ser1151Thr | |
| NM_138270.5:c.3338G>C | NP_612114.2:p.Ser1113Thr |