Linked Data
ClinVar Variation Id:
166714
dbSNP Id:
rs61752456
ExAC:
X:76938579 C / G
gnomAD v2:
X-76938579-C-G
gnomAD v3:
X-77683087-C-G
gnomAD v4:
X-77683087-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77683087C>G , CM000685.2:g.77683087C>G | GRCh38 |
| NC_000023.10:g.76938579C>G , CM000685.1:g.76938579C>G | GRCh37 |
| NC_000023.9:g.76825235C>G | NCBI36 |
| NG_008838.2:g.108135G>C | |
| NG_008838.3:g.108183G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.2169G>C MANE Select | ENSP00000362441.4:p.Glu723Asp | |
| ENST00000373344.9:c.2169G>C | ENSP00000362441.4:p.Glu723Asp | |
| ENST00000395603.7:c.2055G>C | ENSP00000378967.3:p.Glu685Asp | |
| ENST00000480283.5:c.*1797G>C | ENSP00000480196.1:n.*1797G>C | |
| ENST00000624032.3:c.2082G>C | ENSP00000485253.1:p.Glu694Asp | |
| ENST00000624166.3:c.1965G>C | ENSP00000485103.1:p.Glu655Asp | |
| NM_000489.4:c.2169G>C | NP_000480.3:p.Glu723Asp | |
| NM_138270.3:c.2055G>C | NP_612114.2:p.Glu685Asp | |
| XM_005262153.3:c.2166G>C | XP_005262210.2:p.Glu722Asp | |
| XM_005262154.3:c.2082G>C | XP_005262211.2:p.Glu694Asp | |
| XM_005262155.3:c.2052G>C | XP_005262212.2:p.Glu684Asp | |
| XM_005262156.3:c.2004G>C | XP_005262213.2:p.Glu668Asp | |
| XM_005262157.3:c.1965G>C | XP_005262214.2:p.Glu655Asp | |
| XM_006724666.2:c.2052G>C | XP_006724729.1:p.Glu684Asp | |
| XM_006724667.2:c.1890G>C | XP_006724730.1:p.Glu630Asp | |
| XM_006724668.2:c.2169G>C | XP_006724731.1:p.Glu723Asp | |
| XR_938400.1:n.2437G>C | ||
| NM_000489.5:c.2169G>C | NP_000480.3:p.Glu723Asp | |
| XM_005262153.5:c.2166G>C | XP_005262210.2:p.Glu722Asp | |
| XM_005262154.5:c.2082G>C | XP_005262211.2:p.Glu694Asp | |
| XM_005262155.4:c.2052G>C | XP_005262212.2:p.Glu684Asp | |
| XM_005262156.4:c.2004G>C | XP_005262213.2:p.Glu668Asp | |
| XM_005262157.5:c.1965G>C | XP_005262214.2:p.Glu655Asp | |
| XM_006724666.4:c.2052G>C | XP_006724729.1:p.Glu684Asp | |
| XM_006724667.3:c.1890G>C | XP_006724730.1:p.Glu630Asp | |
| XM_006724668.3:c.2169G>C | XP_006724731.1:p.Glu723Asp | |
| XM_017029601.2:c.2079G>C | XP_016885090.1:p.Glu693Asp | |
| XM_017029602.1:c.2049G>C | XP_016885091.1:p.Glu683Asp | |
| XM_017029603.1:c.2001G>C | XP_016885092.1:p.Glu667Asp | |
| XM_017029604.2:c.1968G>C | XP_016885093.1:p.Glu656Asp | |
| XM_017029605.1:c.1965G>C | XP_016885094.1:p.Glu655Asp | |
| XM_017029606.2:c.1938G>C | XP_016885095.1:p.Glu646Asp | |
| XM_017029607.2:c.1935G>C | XP_016885096.1:p.Glu645Asp | |
| XM_017029608.2:c.1887G>C | XP_016885097.1:p.Glu629Asp | |
| XM_017029609.1:c.1851G>C | XP_016885098.1:p.Glu617Asp | |
| XM_017029610.1:c.1848G>C | XP_016885099.1:p.Glu616Asp | |
| XM_017029611.1:c.1803G>C | XP_016885100.1:p.Glu601Asp | |
| XR_001755700.2:n.2394G>C | ||
| NM_138270.4:c.2055G>C | NP_612114.2:p.Glu685Asp | |
| NM_000489.6:c.2169G>C MANE Select | NP_000480.3:p.Glu723Asp | |
| NM_138270.5:c.2055G>C | NP_612114.2:p.Glu685Asp |