Linked Data
ClinVar Variation Id:
210499
dbSNP Id:
rs374244026
ExAC:
X:76777845 T / C
gnomAD v2:
X-76777845-T-C
gnomAD v3:
X-77522367-T-C
gnomAD v4:
X-77522367-T-C
COSMIC:
COSM5945528
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77522367T>C , CM000685.2:g.77522367T>C | GRCh38 |
| NC_000023.10:g.76777845T>C , CM000685.1:g.76777845T>C | GRCh37 |
| NC_000023.9:g.76664501T>C | NCBI36 |
| NG_008838.2:g.268855A>G | |
| NG_008838.3:g.268903A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.6871A>G MANE Select | ENSP00000362441.4:p.Ile2291Val | |
| ENST00000675732.1:c.1969A>G | ENSP00000502598.1:p.Ile657Val | |
| ENST00000373344.9:c.6871A>G | ENSP00000362441.4:p.Ile2291Val | |
| ENST00000395603.7:c.6757A>G | ENSP00000378967.3:p.Ile2253Val | |
| ENST00000480283.5:c.*6499A>G | ENSP00000480196.1:n.*6499A>G | |
| ENST00000623706.3:n.3941A>G | ||
| ENST00000624766.1:n.102A>G | ||
| NM_000489.4:c.6871A>G | NP_000480.3:p.Ile2291Val | |
| NM_138270.3:c.6757A>G | NP_612114.2:p.Ile2253Val | |
| XM_005262153.3:c.6868A>G | XP_005262210.2:p.Ile2290Val | |
| XM_005262154.3:c.6784A>G | XP_005262211.2:p.Ile2262Val | |
| XM_005262155.3:c.6754A>G | XP_005262212.2:p.Ile2252Val | |
| XM_005262156.3:c.6706A>G | XP_005262213.2:p.Ile2236Val | |
| XM_005262157.3:c.6667A>G | XP_005262214.2:p.Ile2223Val | |
| XM_006724666.2:c.6754A>G | XP_006724729.1:p.Ile2252Val | |
| XM_006724667.2:c.6592A>G | XP_006724730.1:p.Ile2198Val | |
| XR_938400.1:n.7213A>G | ||
| NM_000489.5:c.6871A>G | NP_000480.3:p.Ile2291Val | |
| XM_005262153.5:c.6868A>G | XP_005262210.2:p.Ile2290Val | |
| XM_005262154.5:c.6784A>G | XP_005262211.2:p.Ile2262Val | |
| XM_005262155.4:c.6754A>G | XP_005262212.2:p.Ile2252Val | |
| XM_005262156.4:c.6706A>G | XP_005262213.2:p.Ile2236Val | |
| XM_005262157.5:c.6667A>G | XP_005262214.2:p.Ile2223Val | |
| XM_006724666.4:c.6754A>G | XP_006724729.1:p.Ile2252Val | |
| XM_006724667.3:c.6592A>G | XP_006724730.1:p.Ile2198Val | |
| XM_017029601.2:c.6781A>G | XP_016885090.1:p.Ile2261Val | |
| XM_017029602.1:c.6751A>G | XP_016885091.1:p.Ile2251Val | |
| XM_017029603.1:c.6703A>G | XP_016885092.1:p.Ile2235Val | |
| XM_017029604.2:c.6670A>G | XP_016885093.1:p.Ile2224Val | |
| XM_017029605.1:c.6667A>G | XP_016885094.1:p.Ile2223Val | |
| XM_017029606.2:c.6640A>G | XP_016885095.1:p.Ile2214Val | |
| XM_017029607.2:c.6637A>G | XP_016885096.1:p.Ile2213Val | |
| XM_017029608.2:c.6589A>G | XP_016885097.1:p.Ile2197Val | |
| XM_017029609.1:c.6553A>G | XP_016885098.1:p.Ile2185Val | |
| XM_017029610.1:c.6550A>G | XP_016885099.1:p.Ile2184Val | |
| XM_017029611.1:c.6505A>G | XP_016885100.1:p.Ile2169Val | |
| XR_001755700.2:n.7170A>G | ||
| NM_138270.4:c.6757A>G | NP_612114.2:p.Ile2253Val | |
| NM_000489.6:c.6871A>G MANE Select | NP_000480.3:p.Ile2291Val | |
| NM_138270.5:c.6757A>G | NP_612114.2:p.Ile2253Val |