Linked Data
ClinVar Variation Id:
388508
dbSNP Id:
rs967071645
gnomAD v2:
X-76938131-C-G
gnomAD v4:
X-77682639-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77682639C>G , CM000685.2:g.77682639C>G | GRCh38 |
| NC_000023.10:g.76938131C>G , CM000685.1:g.76938131C>G | GRCh37 |
| NC_000023.9:g.76824787C>G | NCBI36 |
| NG_008838.2:g.108583G>C | |
| NG_008838.3:g.108631G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.2617G>C MANE Select | ENSP00000362441.4:p.Glu873Gln | |
| ENST00000373344.9:c.2617G>C | ENSP00000362441.4:p.Glu873Gln | |
| ENST00000395603.7:c.2503G>C | ENSP00000378967.3:p.Glu835Gln | |
| ENST00000480283.5:c.*2245G>C | ENSP00000480196.1:n.*2245G>C | |
| ENST00000624032.3:c.2530G>C | ENSP00000485253.1:p.Glu844Gln | |
| ENST00000624166.3:c.2413G>C | ENSP00000485103.1:p.Glu805Gln | |
| NM_000489.4:c.2617G>C | NP_000480.3:p.Glu873Gln | |
| NM_138270.3:c.2503G>C | NP_612114.2:p.Glu835Gln | |
| XM_005262153.3:c.2614G>C | XP_005262210.2:p.Glu872Gln | |
| XM_005262154.3:c.2530G>C | XP_005262211.2:p.Glu844Gln | |
| XM_005262155.3:c.2500G>C | XP_005262212.2:p.Glu834Gln | |
| XM_005262156.3:c.2452G>C | XP_005262213.2:p.Glu818Gln | |
| XM_005262157.3:c.2413G>C | XP_005262214.2:p.Glu805Gln | |
| XM_006724666.2:c.2500G>C | XP_006724729.1:p.Glu834Gln | |
| XM_006724667.2:c.2338G>C | XP_006724730.1:p.Glu780Gln | |
| XM_006724668.2:c.2617G>C | XP_006724731.1:p.Glu873Gln | |
| XR_938400.1:n.2885G>C | ||
| NM_000489.5:c.2617G>C | NP_000480.3:p.Glu873Gln | |
| XM_005262153.5:c.2614G>C | XP_005262210.2:p.Glu872Gln | |
| XM_005262154.5:c.2530G>C | XP_005262211.2:p.Glu844Gln | |
| XM_005262155.4:c.2500G>C | XP_005262212.2:p.Glu834Gln | |
| XM_005262156.4:c.2452G>C | XP_005262213.2:p.Glu818Gln | |
| XM_005262157.5:c.2413G>C | XP_005262214.2:p.Glu805Gln | |
| XM_006724666.4:c.2500G>C | XP_006724729.1:p.Glu834Gln | |
| XM_006724667.3:c.2338G>C | XP_006724730.1:p.Glu780Gln | |
| XM_006724668.3:c.2617G>C | XP_006724731.1:p.Glu873Gln | |
| XM_017029601.2:c.2527G>C | XP_016885090.1:p.Glu843Gln | |
| XM_017029602.1:c.2497G>C | XP_016885091.1:p.Glu833Gln | |
| XM_017029603.1:c.2449G>C | XP_016885092.1:p.Glu817Gln | |
| XM_017029604.2:c.2416G>C | XP_016885093.1:p.Glu806Gln | |
| XM_017029605.1:c.2413G>C | XP_016885094.1:p.Glu805Gln | |
| XM_017029606.2:c.2386G>C | XP_016885095.1:p.Glu796Gln | |
| XM_017029607.2:c.2383G>C | XP_016885096.1:p.Glu795Gln | |
| XM_017029608.2:c.2335G>C | XP_016885097.1:p.Glu779Gln | |
| XM_017029609.1:c.2299G>C | XP_016885098.1:p.Glu767Gln | |
| XM_017029610.1:c.2296G>C | XP_016885099.1:p.Glu766Gln | |
| XM_017029611.1:c.2251G>C | XP_016885100.1:p.Glu751Gln | |
| XR_001755700.2:n.2842G>C | ||
| NM_138270.4:c.2503G>C | NP_612114.2:p.Glu835Gln | |
| NM_000489.6:c.2617G>C MANE Select | NP_000480.3:p.Glu873Gln | |
| NM_138270.5:c.2503G>C | NP_612114.2:p.Glu835Gln |