Linked Data
dbSNP Id:
rs1941634051
gnomAD v4:
X-77652309-T-C
MyVariant Identifiers:
chrX:g.76907799T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77652309T>C , CM000685.2:g.77652309T>C | GRCh38 |
| NC_000023.10:g.76907799T>C , CM000685.1:g.76907799T>C | GRCh37 |
| NC_000023.9:g.76794455T>C | NCBI36 |
| NG_008838.2:g.138913A>G | |
| NG_008838.3:g.138961A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.4362A>G MANE Select | ENSP00000362441.4:p.Glu1454= | |
| ENST00000373344.9:c.4362A>G | ENSP00000362441.4:p.Glu1454= | |
| ENST00000395603.7:c.4248A>G | ENSP00000378967.3:p.Glu1416= | |
| ENST00000480283.5:c.*3990A>G | ENSP00000480196.1:n.*3990A>G | |
| NM_000489.4:c.4362A>G | NP_000480.3:p.Glu1454= | |
| NM_138270.3:c.4248A>G | NP_612114.2:p.Glu1416= | |
| XM_005262153.3:c.4359A>G | XP_005262210.2:p.Glu1453= | |
| XM_005262154.3:c.4275A>G | XP_005262211.2:p.Glu1425= | |
| XM_005262155.3:c.4245A>G | XP_005262212.2:p.Glu1415= | |
| XM_005262156.3:c.4197A>G | XP_005262213.2:p.Glu1399= | |
| XM_005262157.3:c.4158A>G | XP_005262214.2:p.Glu1386= | |
| XM_006724666.2:c.4245A>G | XP_006724729.1:p.Glu1415= | |
| XM_006724667.2:c.4083A>G | XP_006724730.1:p.Glu1361= | |
| XM_006724668.2:c.4362A>G | XP_006724731.1:p.Glu1454= | |
| XR_938400.1:n.4630A>G | ||
| NM_000489.5:c.4362A>G | NP_000480.3:p.Glu1454= | |
| XM_005262153.5:c.4359A>G | XP_005262210.2:p.Glu1453= | |
| XM_005262154.5:c.4275A>G | XP_005262211.2:p.Glu1425= | |
| XM_005262155.4:c.4245A>G | XP_005262212.2:p.Glu1415= | |
| XM_005262156.4:c.4197A>G | XP_005262213.2:p.Glu1399= | |
| XM_005262157.5:c.4158A>G | XP_005262214.2:p.Glu1386= | |
| XM_006724666.4:c.4245A>G | XP_006724729.1:p.Glu1415= | |
| XM_006724667.3:c.4083A>G | XP_006724730.1:p.Glu1361= | |
| XM_006724668.3:c.4362A>G | XP_006724731.1:p.Glu1454= | |
| XM_017029601.2:c.4272A>G | XP_016885090.1:p.Glu1424= | |
| XM_017029602.1:c.4242A>G | XP_016885091.1:p.Glu1414= | |
| XM_017029603.1:c.4194A>G | XP_016885092.1:p.Glu1398= | |
| XM_017029604.2:c.4161A>G | XP_016885093.1:p.Glu1387= | |
| XM_017029605.1:c.4158A>G | XP_016885094.1:p.Glu1386= | |
| XM_017029606.2:c.4131A>G | XP_016885095.1:p.Glu1377= | |
| XM_017029607.2:c.4128A>G | XP_016885096.1:p.Glu1376= | |
| XM_017029608.2:c.4080A>G | XP_016885097.1:p.Glu1360= | |
| XM_017029609.1:c.4044A>G | XP_016885098.1:p.Glu1348= | |
| XM_017029610.1:c.4041A>G | XP_016885099.1:p.Glu1347= | |
| XM_017029611.1:c.3996A>G | XP_016885100.1:p.Glu1332= | |
| XR_001755700.2:n.4587A>G | ||
| NM_138270.4:c.4248A>G | NP_612114.2:p.Glu1416= | |
| NM_000489.6:c.4362A>G MANE Select | NP_000480.3:p.Glu1454= | |
| NM_138270.5:c.4248A>G | NP_612114.2:p.Glu1416= |