gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000501 (NFE)
Exomes Max Group AF
0.00000456 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64258747C>G , CM000673.2:g.64258747C>G | GRCh38 |
| NC_000011.9:g.64026219C>G , CM000673.1:g.64026219C>G | GRCh37 |
| NC_000011.8:g.63782795C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279230.12:c.1253+34C>G MANE Select | ENSP00000279230.6:n.1253+34C>G | |
| ENST00000279230.10:c.1253+34C>G | ENSP00000279230.6:n.1253+34C>G | |
| ENST00000325234.5:c.1052+34C>G | ENSP00000324660.5:n.1052+34C>G | |
| ENST00000540288.5:c.1253+34C>G | ENSP00000443631.1:n.1253+34C>G | |
| NM_000932.2:c.1253+34C>G | NP_000923.1:n.1253+34C>G | |
| NM_001184883.1:c.1052+34C>G | NP_001171812.1:n.1052+34C>G | |
| NM_001316314.1:c.1253+34C>G | NP_001303243.1:n.1253+34C>G | |
| XM_011545101.1:c.1253+34C>G | XP_011543403.1:n.1253+34C>G | |
| XM_011545101.2:c.1253+34C>G | XP_011543403.1:n.1253+34C>G | |
| XM_017017925.2:c.1253+34C>G | XP_016873414.1:n.1253+34C>G | |
| NM_000932.3:c.1253+34C>G | NP_000923.1:n.1253+34C>G | |
| NM_001184883.2:c.1052+34C>G | NP_001171812.1:n.1052+34C>G | |
| NM_001316314.2:c.1253+34C>G | NP_001303243.1:n.1253+34C>G | |
| NM_000932.5:c.1253+34C>G MANE Select | NP_000923.1:n.1253+34C>G | |
| NM_001316314.3:c.1253+34C>G | NP_001303243.1:n.1253+34C>G |