gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56289361 (AFR)
Genomes Max Group AF
0.56289361 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41345604C>A , CM000681.2:g.41345604C>A | GRCh38 |
| NC_000019.9:g.41851509C>A , CM000681.1:g.41851509C>A | GRCh37 |
| NC_000019.8:g.46543349C>A | NCBI36 |
| NG_013364.1:g.13323G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.517-740G>T MANE Select | ENSP00000221930.4:n.517-740G>T | |
| ENST00000600196.2:c.517-740G>T | ENSP00000504008.1:n.517-740G>T | |
| ENST00000677934.1:c.517-740G>T | ENSP00000504769.1:n.517-740G>T | |
| ENST00000221930.5:c.517-740G>T | ENSP00000221930.4:n.517-740G>T | |
| ENST00000597453.1:n.48-740G>T | ||
| NM_000660.5:c.517-740G>T | NP_000651.3:n.517-740G>T | |
| XM_011527242.1:c.517-740G>T | XP_011525544.1:n.517-740G>T | |
| NM_000660.6:c.517-740G>T | NP_000651.3:n.517-740G>T | |
| XM_011527242.2:c.517-740G>T | XP_011525544.1:n.517-740G>T | |
| NM_000660.7:c.517-740G>T MANE Select | NP_000651.3:n.517-740G>T |