Linked Data
ClinVar Variation Id:
2660954
ClinVar RCV Id:
RCV003439683
dbSNP Id:
rs782540364
gnomAD v4:
X-77508434-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77508434C>T , CM000685.2:g.77508434C>T | GRCh38 |
| NC_000023.10:g.76763912C>T , CM000685.1:g.76763912C>T | GRCh37 |
| NC_000023.9:g.76650568C>T | NCBI36 |
| NG_008838.2:g.282788G>A | |
| NG_008838.3:g.282836G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.7396G>A MANE Select | ENSP00000362441.4:p.Gly2466Ser | |
| ENST00000675732.1:c.2494G>A | ENSP00000502598.1:p.Gly832Ser | |
| ENST00000373344.9:c.7396G>A | ENSP00000362441.4:p.Gly2466Ser | |
| ENST00000395603.7:c.7282G>A | ENSP00000378967.3:p.Gly2428Ser | |
| ENST00000480283.5:c.*7024G>A | ENSP00000480196.1:n.*7024G>A | |
| ENST00000623706.3:n.5716G>A | ||
| NM_000489.4:c.7396G>A | NP_000480.3:p.Gly2466Ser | |
| NM_138270.3:c.7282G>A | NP_612114.2:p.Gly2428Ser | |
| XM_005262153.3:c.7393G>A | XP_005262210.2:p.Gly2465Ser | |
| XM_005262154.3:c.7309G>A | XP_005262211.2:p.Gly2437Ser | |
| XM_005262155.3:c.7279G>A | XP_005262212.2:p.Gly2427Ser | |
| XM_005262156.3:c.7231G>A | XP_005262213.2:p.Gly2411Ser | |
| XM_005262157.3:c.7192G>A | XP_005262214.2:p.Gly2398Ser | |
| XM_006724666.2:c.7279G>A | XP_006724729.1:p.Gly2427Ser | |
| XM_006724667.2:c.7117G>A | XP_006724730.1:p.Gly2373Ser | |
| XR_938400.1:n.8988G>A | ||
| NM_000489.5:c.7396G>A | NP_000480.3:p.Gly2466Ser | |
| XM_005262153.5:c.7393G>A | XP_005262210.2:p.Gly2465Ser | |
| XM_005262154.5:c.7309G>A | XP_005262211.2:p.Gly2437Ser | |
| XM_005262155.4:c.7279G>A | XP_005262212.2:p.Gly2427Ser | |
| XM_005262156.4:c.7231G>A | XP_005262213.2:p.Gly2411Ser | |
| XM_005262157.5:c.7192G>A | XP_005262214.2:p.Gly2398Ser | |
| XM_006724666.4:c.7279G>A | XP_006724729.1:p.Gly2427Ser | |
| XM_006724667.3:c.7117G>A | XP_006724730.1:p.Gly2373Ser | |
| XM_017029601.2:c.7306G>A | XP_016885090.1:p.Gly2436Ser | |
| XM_017029602.1:c.7276G>A | XP_016885091.1:p.Gly2426Ser | |
| XM_017029603.1:c.7228G>A | XP_016885092.1:p.Gly2410Ser | |
| XM_017029604.2:c.7195G>A | XP_016885093.1:p.Gly2399Ser | |
| XM_017029605.1:c.7192G>A | XP_016885094.1:p.Gly2398Ser | |
| XM_017029606.2:c.7165G>A | XP_016885095.1:p.Gly2389Ser | |
| XM_017029607.2:c.7162G>A | XP_016885096.1:p.Gly2388Ser | |
| XM_017029608.2:c.7114G>A | XP_016885097.1:p.Gly2372Ser | |
| XM_017029609.1:c.7078G>A | XP_016885098.1:p.Gly2360Ser | |
| XM_017029610.1:c.7075G>A | XP_016885099.1:p.Gly2359Ser | |
| XM_017029611.1:c.7030G>A | XP_016885100.1:p.Gly2344Ser | |
| XR_001755700.2:n.7695G>A | ||
| NM_138270.4:c.7282G>A | NP_612114.2:p.Gly2428Ser | |
| NM_000489.6:c.7396G>A MANE Select | NP_000480.3:p.Gly2466Ser | |
| NM_138270.5:c.7282G>A | NP_612114.2:p.Gly2428Ser |