Linked Data
ClinVar Variation Id:
390054
dbSNP Id:
rs947189709
gnomAD v2:
X-76939270-T-C
gnomAD v3:
X-77683778-T-C
gnomAD v4:
X-77683778-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77683778T>C , CM000685.2:g.77683778T>C | GRCh38 |
| NC_000023.10:g.76939270T>C , CM000685.1:g.76939270T>C | GRCh37 |
| NC_000023.9:g.76825926T>C | NCBI36 |
| NG_008838.2:g.107444A>G | |
| NG_008838.3:g.107492A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.1478A>G MANE Select | ENSP00000362441.4:p.His493Arg | |
| ENST00000373344.9:c.1478A>G | ENSP00000362441.4:p.His493Arg | |
| ENST00000395603.7:c.1364A>G | ENSP00000378967.3:p.His455Arg | |
| ENST00000480283.5:c.*1106A>G | ENSP00000480196.1:n.*1106A>G | |
| ENST00000623321.3:c.1313A>G | ENSP00000485127.1:p.His438Arg | |
| ENST00000624032.3:c.1478A>G | ENSP00000485253.1:p.His493Arg | |
| ENST00000624166.3:c.1361A>G | ENSP00000485103.1:p.His454Arg | |
| NM_000489.4:c.1478A>G | NP_000480.3:p.His493Arg | |
| NM_138270.3:c.1364A>G | NP_612114.2:p.His455Arg | |
| XM_005262153.3:c.1475A>G | XP_005262210.2:p.His492Arg | |
| XM_005262154.3:c.1478A>G | XP_005262211.2:p.His493Arg | |
| XM_005262155.3:c.1361A>G | XP_005262212.2:p.His454Arg | |
| XM_005262156.3:c.1313A>G | XP_005262213.2:p.His438Arg | |
| XM_005262157.3:c.1361A>G | XP_005262214.2:p.His454Arg | |
| XM_006724666.2:c.1361A>G | XP_006724729.1:p.His454Arg | |
| XM_006724667.2:c.1199A>G | XP_006724730.1:p.His400Arg | |
| XM_006724668.2:c.1478A>G | XP_006724731.1:p.His493Arg | |
| XR_938400.1:n.1746A>G | ||
| NM_000489.5:c.1478A>G | NP_000480.3:p.His493Arg | |
| XM_005262153.5:c.1475A>G | XP_005262210.2:p.His492Arg | |
| XM_005262154.5:c.1478A>G | XP_005262211.2:p.His493Arg | |
| XM_005262155.4:c.1361A>G | XP_005262212.2:p.His454Arg | |
| XM_005262156.4:c.1313A>G | XP_005262213.2:p.His438Arg | |
| XM_005262157.5:c.1361A>G | XP_005262214.2:p.His454Arg | |
| XM_006724666.4:c.1361A>G | XP_006724729.1:p.His454Arg | |
| XM_006724667.3:c.1199A>G | XP_006724730.1:p.His400Arg | |
| XM_006724668.3:c.1478A>G | XP_006724731.1:p.His493Arg | |
| XM_017029601.2:c.1475A>G | XP_016885090.1:p.His492Arg | |
| XM_017029602.1:c.1358A>G | XP_016885091.1:p.His453Arg | |
| XM_017029603.1:c.1310A>G | XP_016885092.1:p.His437Arg | |
| XM_017029604.2:c.1364A>G | XP_016885093.1:p.His455Arg | |
| XM_017029605.1:c.1361A>G | XP_016885094.1:p.His454Arg | |
| XM_017029606.2:c.1247A>G | XP_016885095.1:p.His416Arg | |
| XM_017029607.2:c.1244A>G | XP_016885096.1:p.His415Arg | |
| XM_017029608.2:c.1196A>G | XP_016885097.1:p.His399Arg | |
| XM_017029609.1:c.1247A>G | XP_016885098.1:p.His416Arg | |
| XM_017029610.1:c.1244A>G | XP_016885099.1:p.His415Arg | |
| XM_017029611.1:c.1199A>G | XP_016885100.1:p.His400Arg | |
| XR_001755700.2:n.1703A>G | ||
| NM_138270.4:c.1364A>G | NP_612114.2:p.His455Arg | |
| NM_000489.6:c.1478A>G MANE Select | NP_000480.3:p.His493Arg | |
| NM_138270.5:c.1364A>G | NP_612114.2:p.His455Arg |