gnomAD v4:
Joint Max Group AF
0.00002618 (NFE)
Exomes Max Group AF
0.0000278 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404307A>G , CM000666.2:g.73404307A>G | GRCh38 |
| NC_000004.11:g.74270024A>G , CM000666.1:g.74270024A>G | GRCh37 |
| NC_000004.10:g.74488888A>G | NCBI36 |
| NG_009291.1:g.5053A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.-21A>G MANE Select | ENSP00000295897.4:n.-21A>G | |
| ENST00000295897.8:c.-21A>G | ENSP00000295897.4:n.-21A>G | |
| ENST00000415165.6:c.-21A>G | ENSP00000401820.2:n.-21A>G | |
| ENST00000441319.5:c.48-62A>G | ENSP00000392541.1:n.48-62A>G | |
| ENST00000476441.6:c.-21A>G | ENSP00000423727.1:n.-21A>G | |
| ENST00000503124.5:c.-201A>G | ENSP00000421027.1:n.-201A>G | |
| ENST00000509063.5:c.-21A>G | ENSP00000422784.1:n.-21A>G | |
| ENST00000510166.5:n.21A>G | ||
| ENST00000514786.1:n.19A>G | ||
| ENST00000515133.5:n.21A>G | ||
| ENST00000621085.4:c.-21A>G | ENSP00000483421.1:n.-21A>G | |
| ENST00000621628.4:c.-21A>G | ENSP00000480485.1:n.-21A>G | |
| NM_000477.5:c.-21A>G | NP_000468.1:n.-21A>G | |
| NM_000477.6:c.-21A>G | NP_000468.1:n.-21A>G | |
| NM_000477.7:c.-21A>G MANE Select | NP_000468.1:n.-21A>G |