Linked Data
ClinVar Variation Id:
93132
dbSNP Id:
rs35738915
ExAC:
X:76939115 G / C
gnomAD v2:
X-76939115-G-C
gnomAD v3:
X-77683623-G-C
gnomAD v4:
X-77683623-G-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77683623G>C , CM000685.2:g.77683623G>C | GRCh38 |
| NC_000023.10:g.76939115G>C , CM000685.1:g.76939115G>C | GRCh37 |
| NC_000023.9:g.76825771G>C | NCBI36 |
| NG_008838.2:g.107599C>G | |
| NG_008838.3:g.107647C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.1633C>G MANE Select | ENSP00000362441.4:p.Gln545Glu | |
| ENST00000373344.9:c.1633C>G | ENSP00000362441.4:p.Gln545Glu | |
| ENST00000395603.7:c.1519C>G | ENSP00000378967.3:p.Gln507Glu | |
| ENST00000480283.5:c.*1261C>G | ENSP00000480196.1:n.*1261C>G | |
| ENST00000623321.3:c.1468C>G | ENSP00000485127.1:p.Gln490Glu | |
| ENST00000624032.3:c.1633C>G | ENSP00000485253.1:p.Gln545Glu | |
| ENST00000624166.3:c.1516C>G | ENSP00000485103.1:p.Gln506Glu | |
| NM_000489.4:c.1633C>G | NP_000480.3:p.Gln545Glu | |
| NM_138270.3:c.1519C>G | NP_612114.2:p.Gln507Glu | |
| XM_005262153.3:c.1630C>G | XP_005262210.2:p.Gln544Glu | |
| XM_005262154.3:c.1633C>G | XP_005262211.2:p.Gln545Glu | |
| XM_005262155.3:c.1516C>G | XP_005262212.2:p.Gln506Glu | |
| XM_005262156.3:c.1468C>G | XP_005262213.2:p.Gln490Glu | |
| XM_005262157.3:c.1516C>G | XP_005262214.2:p.Gln506Glu | |
| XM_006724666.2:c.1516C>G | XP_006724729.1:p.Gln506Glu | |
| XM_006724667.2:c.1354C>G | XP_006724730.1:p.Gln452Glu | |
| XM_006724668.2:c.1633C>G | XP_006724731.1:p.Gln545Glu | |
| XR_938400.1:n.1901C>G | ||
| NM_000489.5:c.1633C>G | NP_000480.3:p.Gln545Glu | |
| XM_005262153.5:c.1630C>G | XP_005262210.2:p.Gln544Glu | |
| XM_005262154.5:c.1633C>G | XP_005262211.2:p.Gln545Glu | |
| XM_005262155.4:c.1516C>G | XP_005262212.2:p.Gln506Glu | |
| XM_005262156.4:c.1468C>G | XP_005262213.2:p.Gln490Glu | |
| XM_005262157.5:c.1516C>G | XP_005262214.2:p.Gln506Glu | |
| XM_006724666.4:c.1516C>G | XP_006724729.1:p.Gln506Glu | |
| XM_006724667.3:c.1354C>G | XP_006724730.1:p.Gln452Glu | |
| XM_006724668.3:c.1633C>G | XP_006724731.1:p.Gln545Glu | |
| XM_017029601.2:c.1630C>G | XP_016885090.1:p.Gln544Glu | |
| XM_017029602.1:c.1513C>G | XP_016885091.1:p.Gln505Glu | |
| XM_017029603.1:c.1465C>G | XP_016885092.1:p.Gln489Glu | |
| XM_017029604.2:c.1519C>G | XP_016885093.1:p.Gln507Glu | |
| XM_017029605.1:c.1516C>G | XP_016885094.1:p.Gln506Glu | |
| XM_017029606.2:c.1402C>G | XP_016885095.1:p.Gln468Glu | |
| XM_017029607.2:c.1399C>G | XP_016885096.1:p.Gln467Glu | |
| XM_017029608.2:c.1351C>G | XP_016885097.1:p.Gln451Glu | |
| XM_017029609.1:c.1402C>G | XP_016885098.1:p.Gln468Glu | |
| XM_017029610.1:c.1399C>G | XP_016885099.1:p.Gln467Glu | |
| XM_017029611.1:c.1354C>G | XP_016885100.1:p.Gln452Glu | |
| XR_001755700.2:n.1858C>G | ||
| NM_138270.4:c.1519C>G | NP_612114.2:p.Gln507Glu | |
| NM_000489.6:c.1633C>G MANE Select | NP_000480.3:p.Gln545Glu | |
| NM_138270.5:c.1519C>G | NP_612114.2:p.Gln507Glu |