gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3781381 (AFR)
Genomes Max Group AF
0.37768686 (AFR)
Exomes Max Group AF
0.3728043 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102654464A>G , CM000672.2:g.102654464A>G | GRCh38 |
| NC_000010.10:g.104414221A>G , CM000672.1:g.104414221A>G | GRCh37 |
| NC_000010.9:g.104404211A>G | NCBI36 |
| NG_051595.1:g.14970A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710327.1:c.571-189A>G | ENSP00000518207.1:n.571-189A>G | |
| ENST00000302424.12:c.571-189A>G | ENSP00000302120.6:n.571-189A>G | |
| ENST00000462202.3:c.302-616A>G | ||
| ENST00000479004.2:n.152-189A>G | ||
| ENST00000487927.6:n.68-189A>G | ||
| ENST00000642664.1:c.352-189A>G | ENSP00000496615.1:n.352-189A>G | |
| ENST00000643376.1:c.183-189A>G | ||
| ENST00000643721.2:c.571-189A>G MANE Select | ENSP00000496301.1:n.571-189A>G | |
| ENST00000644572.1:n.500A>G | ||
| ENST00000644979.1:n.1004A>G | ||
| ENST00000645961.1:c.181-189A>G | ENSP00000494181.1:n.181-189A>G | |
| ENST00000646349.1:n.126-189A>G | ||
| ENST00000646757.1:n.421A>G | ||
| ENST00000302424.11:c.571-189A>G | ENSP00000302120.5:n.571-189A>G | |
| ENST00000462202.2:c.302-616A>G | ||
| ENST00000487927.5:n.61-189A>G | ||
| NM_030912.2:c.571-189A>G | NP_112174.2:n.571-189A>G | |
| XM_006717988.2:c.571-189A>G | XP_006718051.1:n.571-189A>G | |
| XM_011540217.1:c.571-616A>G | XP_011538519.1:n.571-616A>G | |
| XR_946271.1:n.85+583T>C | ||
| XR_946272.1:n.85+583T>C | ||
| NM_001345950.1:c.571-616A>G | NP_001332879.1:n.571-616A>G | |
| NR_144321.1:n.694-189A>G | ||
| XR_001747575.1:n.85+583T>C | ||
| XR_001747576.1:n.85+583T>C | ||
| NM_030912.3:c.571-189A>G MANE Select | NP_112174.2:n.571-189A>G |