Linked Data
ClinVar Variation Id:
520769
dbSNP Id:
rs782708557
ExAC:
X:76920164 T / G
gnomAD v2:
X-76920164-T-G
gnomAD v3:
X-77664675-T-G
gnomAD v4:
X-77664675-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77664675T>G , CM000685.2:g.77664675T>G | GRCh38 |
| NC_000023.10:g.76920164T>G , CM000685.1:g.76920164T>G | GRCh37 |
| NC_000023.9:g.76806820T>G | NCBI36 |
| NG_008838.2:g.126547A>C | |
| NG_008838.3:g.126595A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.3913A>C MANE Select | ENSP00000362441.4:p.Lys1305Gln | |
| ENST00000373344.9:c.3913A>C | ENSP00000362441.4:p.Lys1305Gln | |
| ENST00000395603.7:c.3799A>C | ENSP00000378967.3:p.Lys1267Gln | |
| ENST00000480283.5:c.*3541A>C | ENSP00000480196.1:n.*3541A>C | |
| ENST00000624166.3:c.3709A>C | ENSP00000485103.1:p.Lys1237Gln | |
| NM_000489.4:c.3913A>C | NP_000480.3:p.Lys1305Gln | |
| NM_138270.3:c.3799A>C | NP_612114.2:p.Lys1267Gln | |
| XM_005262153.3:c.3910A>C | XP_005262210.2:p.Lys1304Gln | |
| XM_005262154.3:c.3826A>C | XP_005262211.2:p.Lys1276Gln | |
| XM_005262155.3:c.3796A>C | XP_005262212.2:p.Lys1266Gln | |
| XM_005262156.3:c.3748A>C | XP_005262213.2:p.Lys1250Gln | |
| XM_005262157.3:c.3709A>C | XP_005262214.2:p.Lys1237Gln | |
| XM_006724666.2:c.3796A>C | XP_006724729.1:p.Lys1266Gln | |
| XM_006724667.2:c.3634A>C | XP_006724730.1:p.Lys1212Gln | |
| XM_006724668.2:c.3913A>C | XP_006724731.1:p.Lys1305Gln | |
| XR_938400.1:n.4181A>C | ||
| NM_000489.5:c.3913A>C | NP_000480.3:p.Lys1305Gln | |
| XM_005262153.5:c.3910A>C | XP_005262210.2:p.Lys1304Gln | |
| XM_005262154.5:c.3826A>C | XP_005262211.2:p.Lys1276Gln | |
| XM_005262155.4:c.3796A>C | XP_005262212.2:p.Lys1266Gln | |
| XM_005262156.4:c.3748A>C | XP_005262213.2:p.Lys1250Gln | |
| XM_005262157.5:c.3709A>C | XP_005262214.2:p.Lys1237Gln | |
| XM_006724666.4:c.3796A>C | XP_006724729.1:p.Lys1266Gln | |
| XM_006724667.3:c.3634A>C | XP_006724730.1:p.Lys1212Gln | |
| XM_006724668.3:c.3913A>C | XP_006724731.1:p.Lys1305Gln | |
| XM_017029601.2:c.3823A>C | XP_016885090.1:p.Lys1275Gln | |
| XM_017029602.1:c.3793A>C | XP_016885091.1:p.Lys1265Gln | |
| XM_017029603.1:c.3745A>C | XP_016885092.1:p.Lys1249Gln | |
| XM_017029604.2:c.3712A>C | XP_016885093.1:p.Lys1238Gln | |
| XM_017029605.1:c.3709A>C | XP_016885094.1:p.Lys1237Gln | |
| XM_017029606.2:c.3682A>C | XP_016885095.1:p.Lys1228Gln | |
| XM_017029607.2:c.3679A>C | XP_016885096.1:p.Lys1227Gln | |
| XM_017029608.2:c.3631A>C | XP_016885097.1:p.Lys1211Gln | |
| XM_017029609.1:c.3595A>C | XP_016885098.1:p.Lys1199Gln | |
| XM_017029610.1:c.3592A>C | XP_016885099.1:p.Lys1198Gln | |
| XM_017029611.1:c.3547A>C | XP_016885100.1:p.Lys1183Gln | |
| XR_001755700.2:n.4138A>C | ||
| NM_138270.4:c.3799A>C | NP_612114.2:p.Lys1267Gln | |
| NM_000489.6:c.3913A>C MANE Select | NP_000480.3:p.Lys1305Gln | |
| NM_138270.5:c.3799A>C | NP_612114.2:p.Lys1267Gln |