gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83467319 (NFE)
Genomes Max Group AF
0.83467319 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.49732085G>C , CM000675.2:g.49732085G>C | GRCh38 |
| NC_000013.10:g.50306221G>C , CM000675.1:g.50306221G>C | GRCh37 |
| NC_000013.9:g.49204222G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261667.8:c.383+286C>G MANE Select | ENSP00000261667.3:n.383+286C>G | |
| ENST00000261667.7:c.383+286C>G | ENSP00000261667.3:n.383+286C>G | |
| NM_002267.3:c.383+286C>G | NP_002258.2:n.383+286C>G | |
| XM_017020561.1:c.311+286C>G | XP_016876050.1:n.311+286C>G | |
| NM_002267.4:c.383+286C>G MANE Select | NP_002258.2:n.383+286C>G |