gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33844688 (NFE)
Genomes Max Group AF
0.33844688 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.49716879T>C , CM000678.2:g.49716879T>C | GRCh38 |
| NC_000016.9:g.49750790T>C , CM000678.1:g.49750790T>C | GRCh37 |
| NC_000016.8:g.48308291T>C | NCBI36 |
| NG_032972.1:g.146041A>G | |
| NG_032972.2:g.146041A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563137.7:c.301+13892A>G MANE Select | ENSP00000455588.3:n.301+13892A>G | |
| ENST00000262383.6:c.277+13892A>G | ENSP00000262383.2:n.277+13892A>G | |
| ENST00000561648.5:c.277+13892A>G | ENSP00000455426.1:n.277+13892A>G | |
| ENST00000562520.1:c.97+13892A>G | ENSP00000457664.1:n.97+13892A>G | |
| ENST00000562871.5:c.97+13892A>G | ENSP00000457928.1:n.97+13892A>G | |
| ENST00000563137.6:c.97+13892A>G | ENSP00000455588.2:n.97+13892A>G | |
| NM_001271620.1:c.97+13892A>G | NP_001258549.1:n.97+13892A>G | |
| NM_015069.3:c.277+13892A>G | NP_055884.2:n.277+13892A>G | |
| XM_005255856.3:c.97+13892A>G | XP_005255913.1:n.97+13892A>G | |
| XM_006721171.2:c.322+13892A>G | XP_006721234.1:n.322+13892A>G | |
| XM_011522962.1:c.370+13892A>G | XP_011521264.1:n.370+13892A>G | |
| NM_001271620.2:c.97+13892A>G | NP_001258549.1:n.97+13892A>G | |
| NM_015069.4:c.277+13892A>G | NP_055884.2:n.277+13892A>G | |
| XM_005255856.4:c.97+13892A>G | XP_005255913.1:n.97+13892A>G | |
| XM_006721171.4:c.322+13892A>G | XP_006721234.1:n.322+13892A>G | |
| XM_017023076.2:c.301+13892A>G | XP_016878565.1:n.301+13892A>G | |
| XM_017023077.1:c.97+13892A>G | XP_016878566.1:n.97+13892A>G | |
| XM_017023078.1:c.97+13892A>G | XP_016878567.1:n.97+13892A>G | |
| NM_001379286.1:c.301+13892A>G MANE Select | NP_001366215.1:n.301+13892A>G | |
| NM_015069.5:c.277+13892A>G | NP_055884.2:n.277+13892A>G |