gnomAD v4:
Joint Max Group AF
0.0000199 (SAS)
Exomes Max Group AF
0.00002097 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586013C>G , CM000673.2:g.67586013C>G | GRCh38 |
| NC_000011.9:g.67353484C>G , CM000673.1:g.67353484C>G | GRCh37 |
| NC_000011.8:g.67110060C>G | NCBI36 |
| NG_012075.1:g.7419C>G , LRG_723:g.7419C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.337-376C>G | ENSP00000381604.1:n.337-376C>G | |
| ENST00000398606.10:c.337-91C>G MANE Select | ENSP00000381607.3:n.337-91C>G | |
| ENST00000646888.1:c.*53-91C>G | ENSP00000494477.1:n.*53-91C>G | |
| ENST00000398603.5:c.337-376C>G | ENSP00000381604.1:n.337-376C>G | |
| ENST00000398606.7:c.337-91C>G | ENSP00000381607.3:n.337-91C>G | |
| ENST00000467591.1:n.448-91C>G | ||
| ENST00000494593.1:n.1132-91C>G | ||
| ENST00000498765.5:c.400-91C>G | ||
| NM_000852.3:c.337-91C>G , LRG_723t1:c.337-91C>G | NP_000843.1:n.337-91C>G | |
| NM_000852.4:c.337-91C>G MANE Select | NP_000843.1:n.337-91C>G |