Linked Data
ClinVar Variation Id:
284840
dbSNP Id:
rs782553301
ExAC:
X:76912134 T / C
gnomAD v2:
X-76912134-T-C
gnomAD v3:
X-77656644-T-C
gnomAD v4:
X-77656644-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77656644T>C , CM000685.2:g.77656644T>C | GRCh38 |
| NC_000023.10:g.76912134T>C , CM000685.1:g.76912134T>C | GRCh37 |
| NC_000023.9:g.76798790T>C | NCBI36 |
| NG_008838.2:g.134578A>G | |
| NG_008838.3:g.134626A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.4130A>G MANE Select | ENSP00000362441.4:p.Glu1377Gly | |
| ENST00000373344.9:c.4130A>G | ENSP00000362441.4:p.Glu1377Gly | |
| ENST00000395603.7:c.4016A>G | ENSP00000378967.3:p.Glu1339Gly | |
| ENST00000480283.5:c.*3758A>G | ENSP00000480196.1:n.*3758A>G | |
| ENST00000624166.3:c.3926A>G | ENSP00000485103.1:p.Glu1309Gly | |
| NM_000489.4:c.4130A>G | NP_000480.3:p.Glu1377Gly | |
| NM_138270.3:c.4016A>G | NP_612114.2:p.Glu1339Gly | |
| XM_005262153.3:c.4127A>G | XP_005262210.2:p.Glu1376Gly | |
| XM_005262154.3:c.4043A>G | XP_005262211.2:p.Glu1348Gly | |
| XM_005262155.3:c.4013A>G | XP_005262212.2:p.Glu1338Gly | |
| XM_005262156.3:c.3965A>G | XP_005262213.2:p.Glu1322Gly | |
| XM_005262157.3:c.3926A>G | XP_005262214.2:p.Glu1309Gly | |
| XM_006724666.2:c.4013A>G | XP_006724729.1:p.Glu1338Gly | |
| XM_006724667.2:c.3851A>G | XP_006724730.1:p.Glu1284Gly | |
| XM_006724668.2:c.4130A>G | XP_006724731.1:p.Glu1377Gly | |
| XR_938400.1:n.4398A>G | ||
| NM_000489.5:c.4130A>G | NP_000480.3:p.Glu1377Gly | |
| XM_005262153.5:c.4127A>G | XP_005262210.2:p.Glu1376Gly | |
| XM_005262154.5:c.4043A>G | XP_005262211.2:p.Glu1348Gly | |
| XM_005262155.4:c.4013A>G | XP_005262212.2:p.Glu1338Gly | |
| XM_005262156.4:c.3965A>G | XP_005262213.2:p.Glu1322Gly | |
| XM_005262157.5:c.3926A>G | XP_005262214.2:p.Glu1309Gly | |
| XM_006724666.4:c.4013A>G | XP_006724729.1:p.Glu1338Gly | |
| XM_006724667.3:c.3851A>G | XP_006724730.1:p.Glu1284Gly | |
| XM_006724668.3:c.4130A>G | XP_006724731.1:p.Glu1377Gly | |
| XM_017029601.2:c.4040A>G | XP_016885090.1:p.Glu1347Gly | |
| XM_017029602.1:c.4010A>G | XP_016885091.1:p.Glu1337Gly | |
| XM_017029603.1:c.3962A>G | XP_016885092.1:p.Glu1321Gly | |
| XM_017029604.2:c.3929A>G | XP_016885093.1:p.Glu1310Gly | |
| XM_017029605.1:c.3926A>G | XP_016885094.1:p.Glu1309Gly | |
| XM_017029606.2:c.3899A>G | XP_016885095.1:p.Glu1300Gly | |
| XM_017029607.2:c.3896A>G | XP_016885096.1:p.Glu1299Gly | |
| XM_017029608.2:c.3848A>G | XP_016885097.1:p.Glu1283Gly | |
| XM_017029609.1:c.3812A>G | XP_016885098.1:p.Glu1271Gly | |
| XM_017029610.1:c.3809A>G | XP_016885099.1:p.Glu1270Gly | |
| XM_017029611.1:c.3764A>G | XP_016885100.1:p.Glu1255Gly | |
| XR_001755700.2:n.4355A>G | ||
| NM_138270.4:c.4016A>G | NP_612114.2:p.Glu1339Gly | |
| NM_000489.6:c.4130A>G MANE Select | NP_000480.3:p.Glu1377Gly | |
| NM_138270.5:c.4016A>G | NP_612114.2:p.Glu1339Gly |