Linked Data
ClinVar Variation Id:
520624
dbSNP Id:
rs782274478
ExAC:
X:76777829 T / C
gnomAD v2:
X-76777829-T-C
gnomAD v3:
X-77522351-T-C
gnomAD v4:
X-77522351-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77522351T>C , CM000685.2:g.77522351T>C | GRCh38 |
| NC_000023.10:g.76777829T>C , CM000685.1:g.76777829T>C | GRCh37 |
| NC_000023.9:g.76664485T>C | NCBI36 |
| NG_008838.2:g.268871A>G | |
| NG_008838.3:g.268919A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.6887A>G MANE Select | ENSP00000362441.4:p.Asn2296Ser | |
| ENST00000675732.1:c.1985A>G | ENSP00000502598.1:p.Asn662Ser | |
| ENST00000373344.9:c.6887A>G | ENSP00000362441.4:p.Asn2296Ser | |
| ENST00000395603.7:c.6773A>G | ENSP00000378967.3:p.Asn2258Ser | |
| ENST00000480283.5:c.*6515A>G | ENSP00000480196.1:n.*6515A>G | |
| ENST00000623706.3:n.3957A>G | ||
| ENST00000624766.1:n.118A>G | ||
| NM_000489.4:c.6887A>G | NP_000480.3:p.Asn2296Ser | |
| NM_138270.3:c.6773A>G | NP_612114.2:p.Asn2258Ser | |
| XM_005262153.3:c.6884A>G | XP_005262210.2:p.Asn2295Ser | |
| XM_005262154.3:c.6800A>G | XP_005262211.2:p.Asn2267Ser | |
| XM_005262155.3:c.6770A>G | XP_005262212.2:p.Asn2257Ser | |
| XM_005262156.3:c.6722A>G | XP_005262213.2:p.Asn2241Ser | |
| XM_005262157.3:c.6683A>G | XP_005262214.2:p.Asn2228Ser | |
| XM_006724666.2:c.6770A>G | XP_006724729.1:p.Asn2257Ser | |
| XM_006724667.2:c.6608A>G | XP_006724730.1:p.Asn2203Ser | |
| XR_938400.1:n.7229A>G | ||
| NM_000489.5:c.6887A>G | NP_000480.3:p.Asn2296Ser | |
| XM_005262153.5:c.6884A>G | XP_005262210.2:p.Asn2295Ser | |
| XM_005262154.5:c.6800A>G | XP_005262211.2:p.Asn2267Ser | |
| XM_005262155.4:c.6770A>G | XP_005262212.2:p.Asn2257Ser | |
| XM_005262156.4:c.6722A>G | XP_005262213.2:p.Asn2241Ser | |
| XM_005262157.5:c.6683A>G | XP_005262214.2:p.Asn2228Ser | |
| XM_006724666.4:c.6770A>G | XP_006724729.1:p.Asn2257Ser | |
| XM_006724667.3:c.6608A>G | XP_006724730.1:p.Asn2203Ser | |
| XM_017029601.2:c.6797A>G | XP_016885090.1:p.Asn2266Ser | |
| XM_017029602.1:c.6767A>G | XP_016885091.1:p.Asn2256Ser | |
| XM_017029603.1:c.6719A>G | XP_016885092.1:p.Asn2240Ser | |
| XM_017029604.2:c.6686A>G | XP_016885093.1:p.Asn2229Ser | |
| XM_017029605.1:c.6683A>G | XP_016885094.1:p.Asn2228Ser | |
| XM_017029606.2:c.6656A>G | XP_016885095.1:p.Asn2219Ser | |
| XM_017029607.2:c.6653A>G | XP_016885096.1:p.Asn2218Ser | |
| XM_017029608.2:c.6605A>G | XP_016885097.1:p.Asn2202Ser | |
| XM_017029609.1:c.6569A>G | XP_016885098.1:p.Asn2190Ser | |
| XM_017029610.1:c.6566A>G | XP_016885099.1:p.Asn2189Ser | |
| XM_017029611.1:c.6521A>G | XP_016885100.1:p.Asn2174Ser | |
| XR_001755700.2:n.7186A>G | ||
| NM_138270.4:c.6773A>G | NP_612114.2:p.Asn2258Ser | |
| NM_000489.6:c.6887A>G MANE Select | NP_000480.3:p.Asn2296Ser | |
| NM_138270.5:c.6773A>G | NP_612114.2:p.Asn2258Ser |