gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00027838 (EAS)
Exomes Max Group AF
0.00031503 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186171965A>G , CM000663.2:g.186171965A>G | GRCh38 |
| NC_000001.10:g.186141097A>G , CM000663.1:g.186141097A>G | GRCh37 |
| NC_000001.9:g.184407720A>G | NCBI36 |
| NG_011841.1:g.442415A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15689-41A>G MANE Select | ENSP00000271588.4:n.15689-41A>G | |
| ENST00000271588.8:c.15689-41A>G | ENSP00000271588.4:n.15689-41A>G | |
| ENST00000414277.1:c.65-41A>G | ENSP00000406205.1:n.65-41A>G | |
| ENST00000475585.1:n.277-41A>G | ||
| NM_031935.2:c.15689-41A>G | NP_114141.2:n.15689-41A>G | |
| XM_011510037.1:c.15404-41A>G | XP_011508339.1:n.15404-41A>G | |
| XM_011510038.1:c.15689-41A>G | XP_011508340.1:n.15689-41A>G | |
| XM_011510038.3:c.15689-41A>G | XP_011508340.1:n.15689-41A>G | |
| XM_017002437.1:c.13712-41A>G | XP_016857926.1:n.13712-41A>G | |
| NM_031935.3:c.15689-41A>G MANE Select | NP_114141.2:n.15689-41A>G |