gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42307121 (AFR)
Genomes Max Group AF
0.42307121 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.76198575A>G , CM000673.2:g.76198575A>G | GRCh38 |
| NC_000011.9:g.75909619A>G , CM000673.1:g.75909619A>G | GRCh37 |
| NC_000011.8:g.75587267A>G | NCBI36 |
| NG_046931.1:g.20434T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322563.8:c.84-1857T>C MANE Select | ENSP00000325526.3:n.84-1857T>C | |
| ENST00000322563.7:c.84-1857T>C | ENSP00000325526.3:n.84-1857T>C | |
| ENST00000621122.1:c.84-1857T>C | ENSP00000483229.1:n.84-1857T>C | |
| NM_004626.2:c.84-1857T>C | NP_004617.2:n.84-1857T>C | |
| XM_005274231.1:c.84-1857T>C | XP_005274288.1:n.84-1857T>C | |
| XM_011545237.1:c.84-1857T>C | XP_011543539.1:n.84-1857T>C | |
| XM_011545238.1:c.84-1857T>C | XP_011543540.1:n.84-1857T>C | |
| XM_011545239.1:c.84-1857T>C | XP_011543541.1:n.84-1857T>C | |
| XM_011545240.1:c.84-1857T>C | XP_011543542.1:n.84-1857T>C | |
| XR_950037.1:n.175-1857T>C | ||
| XM_011545239.2:c.84-1857T>C | XP_011543541.1:n.84-1857T>C | |
| XM_011545240.2:c.84-1857T>C | XP_011543542.1:n.84-1857T>C | |
| XM_024448678.1:c.-260-1857T>C | XP_024304446.1:n.-260-1857T>C | |
| XR_002957190.1:n.257-1857T>C | ||
| NM_004626.3:c.84-1857T>C MANE Select | NP_004617.2:n.84-1857T>C |