Linked Data
ClinVar Variation Id:
128491
dbSNP Id:
rs587780284
ExAC:
X:76939310 T / C
gnomAD v2:
X-76939310-T-C
gnomAD v3:
X-77683818-T-C
gnomAD v4:
X-77683818-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77683818T>C , CM000685.2:g.77683818T>C | GRCh38 |
| NC_000023.10:g.76939310T>C , CM000685.1:g.76939310T>C | GRCh37 |
| NC_000023.9:g.76825966T>C | NCBI36 |
| NG_008838.2:g.107404A>G | |
| NG_008838.3:g.107452A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.1438A>G MANE Select | ENSP00000362441.4:p.Thr480Ala | |
| ENST00000373344.9:c.1438A>G | ENSP00000362441.4:p.Thr480Ala | |
| ENST00000395603.7:c.1324A>G | ENSP00000378967.3:p.Thr442Ala | |
| ENST00000480283.5:c.*1066A>G | ENSP00000480196.1:n.*1066A>G | |
| ENST00000623321.3:c.1273A>G | ENSP00000485127.1:p.Thr425Ala | |
| ENST00000624032.3:c.1438A>G | ENSP00000485253.1:p.Thr480Ala | |
| ENST00000624166.3:c.1321A>G | ENSP00000485103.1:p.Thr441Ala | |
| NM_000489.4:c.1438A>G | NP_000480.3:p.Thr480Ala | |
| NM_138270.3:c.1324A>G | NP_612114.2:p.Thr442Ala | |
| XM_005262153.3:c.1435A>G | XP_005262210.2:p.Thr479Ala | |
| XM_005262154.3:c.1438A>G | XP_005262211.2:p.Thr480Ala | |
| XM_005262155.3:c.1321A>G | XP_005262212.2:p.Thr441Ala | |
| XM_005262156.3:c.1273A>G | XP_005262213.2:p.Thr425Ala | |
| XM_005262157.3:c.1321A>G | XP_005262214.2:p.Thr441Ala | |
| XM_006724666.2:c.1321A>G | XP_006724729.1:p.Thr441Ala | |
| XM_006724667.2:c.1159A>G | XP_006724730.1:p.Thr387Ala | |
| XM_006724668.2:c.1438A>G | XP_006724731.1:p.Thr480Ala | |
| XR_938400.1:n.1706A>G | ||
| NM_000489.5:c.1438A>G | NP_000480.3:p.Thr480Ala | |
| XM_005262153.5:c.1435A>G | XP_005262210.2:p.Thr479Ala | |
| XM_005262154.5:c.1438A>G | XP_005262211.2:p.Thr480Ala | |
| XM_005262155.4:c.1321A>G | XP_005262212.2:p.Thr441Ala | |
| XM_005262156.4:c.1273A>G | XP_005262213.2:p.Thr425Ala | |
| XM_005262157.5:c.1321A>G | XP_005262214.2:p.Thr441Ala | |
| XM_006724666.4:c.1321A>G | XP_006724729.1:p.Thr441Ala | |
| XM_006724667.3:c.1159A>G | XP_006724730.1:p.Thr387Ala | |
| XM_006724668.3:c.1438A>G | XP_006724731.1:p.Thr480Ala | |
| XM_017029601.2:c.1435A>G | XP_016885090.1:p.Thr479Ala | |
| XM_017029602.1:c.1318A>G | XP_016885091.1:p.Thr440Ala | |
| XM_017029603.1:c.1270A>G | XP_016885092.1:p.Thr424Ala | |
| XM_017029604.2:c.1324A>G | XP_016885093.1:p.Thr442Ala | |
| XM_017029605.1:c.1321A>G | XP_016885094.1:p.Thr441Ala | |
| XM_017029606.2:c.1207A>G | XP_016885095.1:p.Thr403Ala | |
| XM_017029607.2:c.1204A>G | XP_016885096.1:p.Thr402Ala | |
| XM_017029608.2:c.1156A>G | XP_016885097.1:p.Thr386Ala | |
| XM_017029609.1:c.1207A>G | XP_016885098.1:p.Thr403Ala | |
| XM_017029610.1:c.1204A>G | XP_016885099.1:p.Thr402Ala | |
| XM_017029611.1:c.1159A>G | XP_016885100.1:p.Thr387Ala | |
| XR_001755700.2:n.1663A>G | ||
| NM_138270.4:c.1324A>G | NP_612114.2:p.Thr442Ala | |
| NM_000489.6:c.1438A>G MANE Select | NP_000480.3:p.Thr480Ala | |
| NM_138270.5:c.1324A>G | NP_612114.2:p.Thr442Ala |