Linked Data
dbSNP Id:
rs10906466
gnomAD v2:
10-13790265-A-C
gnomAD v3:
10-13748265-A-C
gnomAD v4:
10-13748265-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13748265A>C , CM000672.2:g.13748265A>C | GRCh38 |
| NC_000010.10:g.13790265A>C , CM000672.1:g.13790265A>C | GRCh37 |
| NC_000010.9:g.13830271A>C | NCBI36 |
| NG_047164.1:g.587603T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000495956.3:c.465-446T>G | ENSP00000488764.2:n.465-446T>G | |
| ENST00000357447.7:c.465-446T>G MANE Select | ENSP00000350032.2:n.465-446T>G | |
| ENST00000650014.1:c.366-446T>G | ENSP00000497425.1:n.366-446T>G | |
| ENST00000650137.1:c.69-446T>G | ENSP00000497228.1:n.69-446T>G | |
| ENST00000264546.10:c.564-446T>G | ENSP00000264546.6:n.564-446T>G | |
| ENST00000342409.3:n.894-446T>G | ||
| ENST00000357447.6:c.465-446T>G | ENSP00000350032.2:n.465-446T>G | |
| ENST00000358621.8:c.420-446T>G | ENSP00000351438.4:n.420-446T>G | |
| NM_018027.3:c.465-446T>G | NP_060497.3:n.465-446T>G | |
| XM_005252489.2:c.564-446T>G | XP_005252546.1:n.564-446T>G | |
| XM_005252490.2:c.513-446T>G | XP_005252547.1:n.513-446T>G | |
| XM_006717457.2:c.609-446T>G | XP_006717520.1:n.609-446T>G | |
| XM_006717458.2:c.609-446T>G | XP_006717521.1:n.609-446T>G | |
| XM_006717459.2:c.609-446T>G | XP_006717522.1:n.609-446T>G | |
| XM_006717460.2:c.564-446T>G | XP_006717523.1:n.564-446T>G | |
| XM_006717461.1:c.564-446T>G | XP_006717524.1:n.564-446T>G | |
| XM_006717462.2:c.465-446T>G | XP_006717525.1:n.465-446T>G | |
| XM_011519539.1:c.558-446T>G | XP_011517841.1:n.558-446T>G | |
| XM_011519540.1:c.609-446T>G | XP_011517842.1:n.609-446T>G | |
| XM_011519541.1:c.609-446T>G | XP_011517843.1:n.609-446T>G | |
| XM_011519542.1:c.480-446T>G | XP_011517844.1:n.480-446T>G | |
| XM_011519543.1:c.465-446T>G | XP_011517845.1:n.465-446T>G | |
| XM_011519544.1:c.465-446T>G | XP_011517846.1:n.465-446T>G | |
| XM_011519545.1:c.465-446T>G | XP_011517847.1:n.465-446T>G | |
| XM_011519546.1:c.465-446T>G | XP_011517848.1:n.465-446T>G | |
| NM_001318336.1:c.513-446T>G | NP_001305265.1:n.513-446T>G | |
| NM_001318337.1:c.564-446T>G | NP_001305266.1:n.564-446T>G | |
| NM_018027.4:c.465-446T>G | NP_060497.3:n.465-446T>G | |
| XM_005252489.3:c.564-446T>G | XP_005252546.1:n.564-446T>G | |
| XM_005252490.3:c.513-446T>G | XP_005252547.1:n.513-446T>G | |
| XM_006717457.3:c.609-446T>G | XP_006717520.1:n.609-446T>G | |
| XM_006717458.4:c.609-446T>G | XP_006717521.1:n.609-446T>G | |
| XM_006717459.3:c.609-446T>G | XP_006717522.1:n.609-446T>G | |
| XM_006717460.3:c.564-446T>G | XP_006717523.1:n.564-446T>G | |
| XM_011519539.2:c.558-446T>G | XP_011517841.1:n.558-446T>G | |
| XM_011519540.2:c.609-446T>G | XP_011517842.1:n.609-446T>G | |
| XM_011519541.2:c.609-446T>G | XP_011517843.1:n.609-446T>G | |
| XM_011519543.3:c.465-446T>G | XP_011517845.1:n.465-446T>G | |
| XM_017016393.2:c.609-446T>G | XP_016871882.1:n.609-446T>G | |
| XM_017016394.2:c.465-446T>G | XP_016871883.1:n.465-446T>G | |
| XM_017016395.2:c.453-446T>G | XP_016871884.1:n.453-446T>G | |
| XM_024448067.1:c.531-446T>G | XP_024303835.1:n.531-446T>G | |
| XM_024448068.1:c.498-446T>G | XP_024303836.1:n.498-446T>G | |
| XM_024448069.1:c.465-446T>G | XP_024303837.1:n.465-446T>G | |
| XM_024448070.1:c.465-446T>G | XP_024303838.1:n.465-446T>G | |
| XM_024448071.1:c.453-446T>G | XP_024303839.1:n.453-446T>G | |
| NM_018027.5:c.465-446T>G MANE Select | NP_060497.3:n.465-446T>G | |
| NM_001318336.2:c.513-446T>G | NP_001305265.1:n.513-446T>G | |
| NM_001318337.2:c.564-446T>G | NP_001305266.1:n.564-446T>G |