gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.94165426 (EAS)
Genomes Max Group AF
0.94165426 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18363391A>G , CM000673.2:g.18363391A>G | GRCh38 |
| NC_000011.9:g.18384938A>G , CM000673.1:g.18384938A>G | GRCh37 |
| NC_000011.8:g.18341514A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265963.9:c.1561-2392A>G MANE Select | ENSP00000265963.4:n.1561-2392A>G | |
| ENST00000265963.8:c.1561-2392A>G | ENSP00000265963.4:n.1561-2392A>G | |
| ENST00000453096.6:c.1561-2392A>G | ENSP00000393638.2:n.1561-2392A>G | |
| ENST00000526630.2:c.331-2392A>G | ENSP00000439774.1:n.331-2392A>G | |
| ENST00000530496.6:c.625-2392A>G | ENSP00000433133.2:n.625-2392A>G | |
| ENST00000534641.5:c.1213-2392A>G | ENSP00000435375.1:n.1213-2392A>G | |
| NM_001142307.1:c.1561-2392A>G | NP_001135779.1:n.1561-2392A>G | |
| NM_005316.3:c.1561-2392A>G | NP_005307.1:n.1561-2392A>G | |
| XM_006718208.2:c.1561-2392A>G | XP_006718271.1:n.1561-2392A>G | |
| XM_006718208.3:c.1561-2392A>G | XP_006718271.1:n.1561-2392A>G | |
| XM_024448457.1:c.1561-2392A>G | XP_024304225.1:n.1561-2392A>G | |
| XM_024448458.1:c.1561-2392A>G | XP_024304226.1:n.1561-2392A>G | |
| NM_005316.4:c.1561-2392A>G MANE Select | NP_005307.1:n.1561-2392A>G | |
| NM_001142307.2:c.1561-2392A>G | NP_001135779.1:n.1561-2392A>G |