gnomAD v4:
Joint Max Group AF
0.00000273 (NFE)
Exomes Max Group AF
0.00000291 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.101829783A>G , CM000666.2:g.101829783A>G | GRCh38 |
| NC_000004.11:g.102750940A>G , CM000666.1:g.102750940A>G | GRCh37 |
| NC_000004.10:g.102969963A>G | NCBI36 |
| NG_015824.1:g.44177A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322953.9:c.71-25A>G MANE Select | ENSP00000320509.4:n.71-25A>G | |
| ENST00000322953.8:c.71-25A>G | ENSP00000320509.4:n.71-25A>G | |
| ENST00000428908.5:c.71-25252A>G | ENSP00000412748.1:n.71-25252A>G | |
| ENST00000444316.2:c.-20-25A>G | ENSP00000388817.2:n.-20-25A>G | |
| ENST00000504592.5:c.26-25A>G | ENSP00000421443.1:n.26-25A>G | |
| ENST00000508653.5:c.71-25252A>G | ENSP00000422314.1:n.71-25252A>G | |
| NM_001083907.2:c.-20-25A>G | NP_001077376.2:n.-20-25A>G | |
| NM_001127507.2:c.71-25252A>G | NP_001120979.2:n.71-25252A>G | |
| NM_017935.4:c.71-25A>G | NP_060405.4:n.71-25A>G | |
| XM_017008337.2:c.-20-25A>G | XP_016863826.1:n.-20-25A>G | |
| NM_017935.5:c.71-25A>G MANE Select | NP_060405.5:n.71-25A>G | |
| NM_001083907.3:c.-20-25A>G | NP_001077376.3:n.-20-25A>G | |
| NM_001127507.3:c.71-25252A>G | NP_001120979.3:n.71-25252A>G |