gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19961675G>A , CM000670.2:g.19961675G>A | GRCh38 |
| NC_000008.10:g.19819186G>A , CM000670.1:g.19819186G>A | GRCh37 |
| NC_000008.9:g.19863466G>A | NCBI36 |
| NG_008855.1:g.27605G>A | |
| NG_008855.2:g.64959G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1323-440G>A MANE Select | ENSP00000497642.1:n.1323-440G>A | |
| ENST00000650478.1:c.263-440G>A | ENSP00000497560.1:n.263-440G>A | |
| ENST00000311322.8:c.1323-440G>A | ENSP00000309757.6:n.1323-440G>A | |
| NM_000237.2:c.1323-440G>A | NP_000228.1:n.1323-440G>A | |
| NM_000237.3:c.1323-440G>A MANE Select | NP_000228.1:n.1323-440G>A |