Linked Data
ClinVar Variation Id:
493532
dbSNP Id:
rs782751824
ExAC:
X:76939309 G / A
gnomAD v2:
X-76939309-G-A
gnomAD v3:
X-77683817-G-A
gnomAD v4:
X-77683817-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77683817G>A , CM000685.2:g.77683817G>A | GRCh38 |
| NC_000023.10:g.76939309G>A , CM000685.1:g.76939309G>A | GRCh37 |
| NC_000023.9:g.76825965G>A | NCBI36 |
| NG_008838.2:g.107405C>T | |
| NG_008838.3:g.107453C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.1439C>T MANE Select | ENSP00000362441.4:p.Thr480Ile | |
| ENST00000373344.9:c.1439C>T | ENSP00000362441.4:p.Thr480Ile | |
| ENST00000395603.7:c.1325C>T | ENSP00000378967.3:p.Thr442Ile | |
| ENST00000480283.5:c.*1067C>T | ENSP00000480196.1:n.*1067C>T | |
| ENST00000623321.3:c.1274C>T | ENSP00000485127.1:p.Thr425Ile | |
| ENST00000624032.3:c.1439C>T | ENSP00000485253.1:p.Thr480Ile | |
| ENST00000624166.3:c.1322C>T | ENSP00000485103.1:p.Thr441Ile | |
| NM_000489.4:c.1439C>T | NP_000480.3:p.Thr480Ile | |
| NM_138270.3:c.1325C>T | NP_612114.2:p.Thr442Ile | |
| XM_005262153.3:c.1436C>T | XP_005262210.2:p.Thr479Ile | |
| XM_005262154.3:c.1439C>T | XP_005262211.2:p.Thr480Ile | |
| XM_005262155.3:c.1322C>T | XP_005262212.2:p.Thr441Ile | |
| XM_005262156.3:c.1274C>T | XP_005262213.2:p.Thr425Ile | |
| XM_005262157.3:c.1322C>T | XP_005262214.2:p.Thr441Ile | |
| XM_006724666.2:c.1322C>T | XP_006724729.1:p.Thr441Ile | |
| XM_006724667.2:c.1160C>T | XP_006724730.1:p.Thr387Ile | |
| XM_006724668.2:c.1439C>T | XP_006724731.1:p.Thr480Ile | |
| XR_938400.1:n.1707C>T | ||
| NM_000489.5:c.1439C>T | NP_000480.3:p.Thr480Ile | |
| XM_005262153.5:c.1436C>T | XP_005262210.2:p.Thr479Ile | |
| XM_005262154.5:c.1439C>T | XP_005262211.2:p.Thr480Ile | |
| XM_005262155.4:c.1322C>T | XP_005262212.2:p.Thr441Ile | |
| XM_005262156.4:c.1274C>T | XP_005262213.2:p.Thr425Ile | |
| XM_005262157.5:c.1322C>T | XP_005262214.2:p.Thr441Ile | |
| XM_006724666.4:c.1322C>T | XP_006724729.1:p.Thr441Ile | |
| XM_006724667.3:c.1160C>T | XP_006724730.1:p.Thr387Ile | |
| XM_006724668.3:c.1439C>T | XP_006724731.1:p.Thr480Ile | |
| XM_017029601.2:c.1436C>T | XP_016885090.1:p.Thr479Ile | |
| XM_017029602.1:c.1319C>T | XP_016885091.1:p.Thr440Ile | |
| XM_017029603.1:c.1271C>T | XP_016885092.1:p.Thr424Ile | |
| XM_017029604.2:c.1325C>T | XP_016885093.1:p.Thr442Ile | |
| XM_017029605.1:c.1322C>T | XP_016885094.1:p.Thr441Ile | |
| XM_017029606.2:c.1208C>T | XP_016885095.1:p.Thr403Ile | |
| XM_017029607.2:c.1205C>T | XP_016885096.1:p.Thr402Ile | |
| XM_017029608.2:c.1157C>T | XP_016885097.1:p.Thr386Ile | |
| XM_017029609.1:c.1208C>T | XP_016885098.1:p.Thr403Ile | |
| XM_017029610.1:c.1205C>T | XP_016885099.1:p.Thr402Ile | |
| XM_017029611.1:c.1160C>T | XP_016885100.1:p.Thr387Ile | |
| XR_001755700.2:n.1664C>T | ||
| NM_138270.4:c.1325C>T | NP_612114.2:p.Thr442Ile | |
| NM_000489.6:c.1439C>T MANE Select | NP_000480.3:p.Thr480Ile | |
| NM_138270.5:c.1325C>T | NP_612114.2:p.Thr442Ile |