gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23547463 (NFE)
Genomes Max Group AF
0.23547463 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45858559C>G , CM000673.2:g.45858559C>G | GRCh38 |
| NC_000011.9:g.45880110C>G , CM000673.1:g.45880110C>G | GRCh37 |
| NC_000011.8:g.45836686C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616080.2:c.325-172C>G MANE Select | ENSP00000484684.1:n.325-172C>G | |
| ENST00000417225.6:c.142-172C>G | ENSP00000397419.2:n.142-172C>G | |
| ENST00000443527.6:c.388-172C>G | ENSP00000406751.2:n.388-172C>G | |
| ENST00000473199.5:n.338-172C>G | ||
| ENST00000532390.5:n.338-172C>G | ||
| ENST00000533779.1:n.108-172C>G | ||
| ENST00000616080.1:c.325-172C>G | ENSP00000484684.1:n.325-172C>G | |
| ENST00000616623.4:c.388-172C>G | ENSP00000478187.1:n.388-172C>G | |
| NM_001127457.2:c.142-172C>G | NP_001120929.1:n.142-172C>G | |
| NM_021117.3:c.388-172C>G | NP_066940.2:n.388-172C>G | |
| NM_021117.4:c.325-172C>G | NP_066940.3:n.325-172C>G | |
| NM_021117.5:c.325-172C>G MANE Select | NP_066940.3:n.325-172C>G | |
| NM_001127457.3:c.142-172C>G | NP_001120929.1:n.142-172C>G |