Linked Data
ClinVar Variation Id:
424012
dbSNP Id:
rs1064796745
gnomAD v2:
X-76937524-T-C
gnomAD v3:
X-77682032-T-C
gnomAD v4:
X-77682032-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77682032T>C , CM000685.2:g.77682032T>C | GRCh38 |
| NC_000023.10:g.76937524T>C , CM000685.1:g.76937524T>C | GRCh37 |
| NC_000023.9:g.76824180T>C | NCBI36 |
| NG_008838.2:g.109190A>G | |
| NG_008838.3:g.109238A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.3224A>G MANE Select | ENSP00000362441.4:p.Asp1075Gly | |
| ENST00000373344.9:c.3224A>G | ENSP00000362441.4:p.Asp1075Gly | |
| ENST00000395603.7:c.3110A>G | ENSP00000378967.3:p.Asp1037Gly | |
| ENST00000480283.5:c.*2852A>G | ENSP00000480196.1:n.*2852A>G | |
| ENST00000493470.2:c.110A>G | ENSP00000485408.1:p.Asp37Gly | |
| ENST00000624166.3:c.3020A>G | ENSP00000485103.1:p.Asp1007Gly | |
| NM_000489.4:c.3224A>G | NP_000480.3:p.Asp1075Gly | |
| NM_138270.3:c.3110A>G | NP_612114.2:p.Asp1037Gly | |
| XM_005262153.3:c.3221A>G | XP_005262210.2:p.Asp1074Gly | |
| XM_005262154.3:c.3137A>G | XP_005262211.2:p.Asp1046Gly | |
| XM_005262155.3:c.3107A>G | XP_005262212.2:p.Asp1036Gly | |
| XM_005262156.3:c.3059A>G | XP_005262213.2:p.Asp1020Gly | |
| XM_005262157.3:c.3020A>G | XP_005262214.2:p.Asp1007Gly | |
| XM_006724666.2:c.3107A>G | XP_006724729.1:p.Asp1036Gly | |
| XM_006724667.2:c.2945A>G | XP_006724730.1:p.Asp982Gly | |
| XM_006724668.2:c.3224A>G | XP_006724731.1:p.Asp1075Gly | |
| XR_938400.1:n.3492A>G | ||
| NM_000489.5:c.3224A>G | NP_000480.3:p.Asp1075Gly | |
| XM_005262153.5:c.3221A>G | XP_005262210.2:p.Asp1074Gly | |
| XM_005262154.5:c.3137A>G | XP_005262211.2:p.Asp1046Gly | |
| XM_005262155.4:c.3107A>G | XP_005262212.2:p.Asp1036Gly | |
| XM_005262156.4:c.3059A>G | XP_005262213.2:p.Asp1020Gly | |
| XM_005262157.5:c.3020A>G | XP_005262214.2:p.Asp1007Gly | |
| XM_006724666.4:c.3107A>G | XP_006724729.1:p.Asp1036Gly | |
| XM_006724667.3:c.2945A>G | XP_006724730.1:p.Asp982Gly | |
| XM_006724668.3:c.3224A>G | XP_006724731.1:p.Asp1075Gly | |
| XM_017029601.2:c.3134A>G | XP_016885090.1:p.Asp1045Gly | |
| XM_017029602.1:c.3104A>G | XP_016885091.1:p.Asp1035Gly | |
| XM_017029603.1:c.3056A>G | XP_016885092.1:p.Asp1019Gly | |
| XM_017029604.2:c.3023A>G | XP_016885093.1:p.Asp1008Gly | |
| XM_017029605.1:c.3020A>G | XP_016885094.1:p.Asp1007Gly | |
| XM_017029606.2:c.2993A>G | XP_016885095.1:p.Asp998Gly | |
| XM_017029607.2:c.2990A>G | XP_016885096.1:p.Asp997Gly | |
| XM_017029608.2:c.2942A>G | XP_016885097.1:p.Asp981Gly | |
| XM_017029609.1:c.2906A>G | XP_016885098.1:p.Asp969Gly | |
| XM_017029610.1:c.2903A>G | XP_016885099.1:p.Asp968Gly | |
| XM_017029611.1:c.2858A>G | XP_016885100.1:p.Asp953Gly | |
| XR_001755700.2:n.3449A>G | ||
| NM_138270.4:c.3110A>G | NP_612114.2:p.Asp1037Gly | |
| NM_000489.6:c.3224A>G MANE Select | NP_000480.3:p.Asp1075Gly | |
| NM_138270.5:c.3110A>G | NP_612114.2:p.Asp1037Gly |