gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004748 (AFR)
Genomes Max Group AF
0.00004748 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46306237T>G , CM000664.2:g.46306237T>G | GRCh38 |
| NC_000002.11:g.46533376T>G , CM000664.1:g.46533376T>G | GRCh37 |
| NC_000002.10:g.46386880T>G | NCBI36 |
| NG_016000.1:g.13836T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263734.5:c.26+8300T>G MANE Select | ENSP00000263734.3:n.26+8300T>G | |
| ENST00000263734.4:c.26+8300T>G | ENSP00000263734.3:n.26+8300T>G | |
| ENST00000449347.5:c.26+8300T>G | ENSP00000406137.1:n.26+8300T>G | |
| ENST00000460015.1:n.432+12139T>G | ||
| ENST00000467888.5:n.174+8300T>G | ||
| NM_001430.4:c.26+8300T>G | NP_001421.2:n.26+8300T>G | |
| XR_940055.1:n.2501+7856A>C | ||
| NM_001430.5:c.26+8300T>G MANE Select | NP_001421.2:n.26+8300T>G |