gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81595203 (AFR)
Genomes Max Group AF
0.81595203 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126939809T>C , CM000673.2:g.126939809T>C | GRCh38 |
| NC_000011.9:g.126809705T>C , CM000673.1:g.126809705T>C | GRCh37 |
| NC_000011.8:g.126314915T>C | NCBI36 |
| NG_012971.1:g.66062A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525144.7:c.55+60646A>G MANE Select | ENSP00000435466.2:n.55+60646A>G | |
| ENST00000525144.6:c.55+60646A>G | ENSP00000435466.2:n.55+60646A>G | |
| ENST00000525704.2:c.55+60646A>G | ENSP00000435094.2:n.55+60646A>G | |
| ENST00000529097.6:c.55+60646A>G | ENSP00000434081.2:n.55+60646A>G | |
| ENST00000533026.6:n.621+60646A>G | ||
| ENST00000547738.5:n.711+60646A>G | ||
| ENST00000549874.1:n.316+60646A>G | ||
| NM_001161707.1:c.55+60646A>G | NP_001155179.1:n.55+60646A>G | |
| NM_001301097.1:c.55+60646A>G | NP_001288026.1:n.55+60646A>G | |
| NM_032531.3:c.55+60646A>G | NP_115920.1:n.55+60646A>G | |
| XM_011543026.1:c.73+60471A>G | XP_011541328.1:n.73+60471A>G | |
| XM_011543027.1:c.55+60646A>G | XP_011541329.1:n.55+60646A>G | |
| XM_011543028.1:c.55+60646A>G | XP_011541330.1:n.55+60646A>G | |
| XM_011543029.1:c.55+60646A>G | XP_011541331.1:n.55+60646A>G | |
| XM_011543030.1:c.73+60471A>G | XP_011541332.1:n.73+60471A>G | |
| XM_011543031.1:c.55+60646A>G | XP_011541333.1:n.55+60646A>G | |
| XM_011543032.1:c.73+60471A>G | XP_011541334.1:n.73+60471A>G | |
| XM_011543033.1:c.55+60646A>G | XP_011541335.1:n.55+60646A>G | |
| XR_948148.1:n.199+640A>G | ||
| XR_948149.1:n.199+640A>G | ||
| XR_948150.1:n.199+640A>G | ||
| XR_948151.1:n.199+640A>G | ||
| XM_011543026.2:c.73+60471A>G | XP_011541328.1:n.73+60471A>G | |
| XM_011543027.2:c.55+60646A>G | XP_011541329.1:n.55+60646A>G | |
| XM_011543028.2:c.55+60646A>G | XP_011541330.1:n.55+60646A>G | |
| XM_011543030.3:c.73+60471A>G | XP_011541332.1:n.73+60471A>G | |
| XM_011543031.2:c.55+60646A>G | XP_011541333.1:n.55+60646A>G | |
| XM_011543032.3:c.73+60471A>G | XP_011541334.1:n.73+60471A>G | |
| XM_017018419.1:c.55+60646A>G | XP_016873908.1:n.55+60646A>G | |
| XM_017018420.1:c.55+60646A>G | XP_016873909.1:n.55+60646A>G | |
| XR_001748433.1:n.90+640A>G | ||
| XR_001748434.2:n.90+640A>G | ||
| XR_001748435.1:n.90+640A>G | ||
| XR_948149.2:n.90+640A>G | ||
| NM_032531.4:c.55+60646A>G MANE Select | NP_115920.1:n.55+60646A>G |