gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000684 (EAS)
Genomes Max Group AF
0.0000684 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65958046T>G , CM000674.2:g.65958046T>G | GRCh38 |
| NC_000012.11:g.66351826T>G , CM000674.1:g.66351826T>G | GRCh37 |
| NC_000012.10:g.64638093T>G | NCBI36 |
| NG_016296.1:g.138587T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403681.7:c.283-5199T>G MANE Select | ENSP00000384026.2:n.283-5199T>G | |
| ENST00000403681.6:c.283-5199T>G | ENSP00000384026.2:n.283-5199T>G | |
| ENST00000539662.1:c.320-5199T>G | ENSP00000440919.1:n.320-5199T>G | |
| ENST00000541363.5:c.*6613T>G | ENSP00000439317.1:n.*6613T>G | |
| NM_003483.4:c.283-5199T>G | NP_003474.1:n.283-5199T>G | |
| NM_003483.6:c.283-5199T>G MANE Select | NP_003474.1:n.283-5199T>G |