gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34694266 (AFR)
Genomes Max Group AF
0.34694266 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86169086T>C , CM000672.2:g.86169086T>C | GRCh38 |
| NC_000010.10:g.87928843T>C , CM000672.1:g.87928843T>C | GRCh37 |
| NC_000010.9:g.87918823T>C | NCBI36 |
| NG_011875.1:g.202408A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327946.12:c.521-30062A>G MANE Select | ENSP00000330148.7:n.521-30062A>G | |
| ENST00000327946.11:c.521-30062A>G | ENSP00000330148.7:n.521-30062A>G | |
| ENST00000464741.2:c.521-30062A>G | ENSP00000433064.1:n.521-30062A>G | |
| NM_017551.2:c.521-30062A>G | NP_060021.1:n.521-30062A>G | |
| XM_011539720.1:c.521-30062A>G | XP_011538022.1:n.521-30062A>G | |
| XM_011539720.2:c.521-30062A>G | XP_011538022.1:n.521-30062A>G | |
| NM_017551.3:c.521-30062A>G MANE Select | NP_060021.1:n.521-30062A>G |