gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59130362 (AFR)
Genomes Max Group AF
0.59130362 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.26034739A>G , CM000680.2:g.26034739A>G | GRCh38 |
| NC_000018.9:g.23614703A>G , CM000680.1:g.23614703A>G | GRCh37 |
| NC_000018.8:g.21868701A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415083.7:c.1096+266T>C MANE Select | ENSP00000414516.2:n.1096+266T>C | |
| ENST00000269137.11:c.1003+266T>C | ENSP00000269137.7:n.1003+266T>C | |
| ENST00000269138.9:c.*825+266T>C | ENSP00000269138.5:n.*825+266T>C | |
| ENST00000415083.6:c.1096+266T>C | ENSP00000414516.2:n.1096+266T>C | |
| ENST00000542420.6:c.1027+266T>C | ENSP00000438066.2:n.1027+266T>C | |
| ENST00000579640.5:c.*992+266T>C | ENSP00000462363.1:n.*992+266T>C | |
| ENST00000580958.5:n.610+266T>C | ||
| ENST00000582092.1:n.61+266T>C | ||
| ENST00000585121.5:c.*867+266T>C | ENSP00000462838.1:n.*867+266T>C | |
| NM_001007559.1:c.1096+266T>C | NP_001007560.1:n.1096+266T>C | |
| NM_001007559.2:c.1096+266T>C | NP_001007560.1:n.1096+266T>C | |
| NM_001308201.1:c.1027+266T>C | NP_001295130.1:n.1027+266T>C | |
| NM_005637.2:c.1003+266T>C | NP_005628.2:n.1003+266T>C | |
| NM_005637.3:c.1003+266T>C | NP_005628.2:n.1003+266T>C | |
| XM_006722527.1:c.850+266T>C | XP_006722590.1:n.850+266T>C | |
| XM_011526145.1:c.1027+266T>C | XP_011524447.1:n.1027+266T>C | |
| XM_011526146.1:c.1027+266T>C | XP_011524448.1:n.1027+266T>C | |
| XM_011526147.1:c.940+266T>C | XP_011524449.1:n.940+266T>C | |
| XM_011526148.1:c.940+266T>C | XP_011524450.1:n.940+266T>C | |
| XM_011526149.1:c.940+266T>C | XP_011524451.1:n.940+266T>C | |
| XM_011526150.1:c.940+266T>C | XP_011524452.1:n.940+266T>C | |
| XM_011526151.1:c.940+266T>C | XP_011524453.1:n.940+266T>C | |
| XM_011526152.1:c.847+266T>C | XP_011524454.1:n.847+266T>C | |
| XM_006722527.2:c.850+266T>C | XP_006722590.1:n.850+266T>C | |
| XM_011526147.2:c.940+266T>C | XP_011524449.1:n.940+266T>C | |
| XM_011526148.2:c.940+266T>C | XP_011524450.1:n.940+266T>C | |
| XM_011526149.2:c.940+266T>C | XP_011524451.1:n.940+266T>C | |
| XM_011526150.2:c.940+266T>C | XP_011524452.1:n.940+266T>C | |
| XM_011526151.2:c.940+266T>C | XP_011524453.1:n.940+266T>C | |
| XM_011526152.2:c.847+266T>C | XP_011524454.1:n.847+266T>C | |
| NM_001007559.3:c.1096+266T>C MANE Select | NP_001007560.1:n.1096+266T>C | |
| NM_001308201.2:c.1027+266T>C | NP_001295130.1:n.1027+266T>C | |
| NM_005637.4:c.1003+266T>C | NP_005628.2:n.1003+266T>C |