gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35669775 (AFR)
Genomes Max Group AF
0.35669775 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.83617740A>G , CM000677.2:g.83617740A>G | GRCh38 |
| NC_000015.9:g.84286492A>G , CM000677.1:g.84286492A>G | GRCh37 |
| NC_000015.8:g.82077496A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427482.7:c.839-342A>G MANE Select | ENSP00000391372.2:n.839-342A>G | |
| ENST00000324537.5:c.863-342A>G | ENSP00000320092.5:n.863-342A>G | |
| ENST00000427482.6:c.839-342A>G | ENSP00000391372.2:n.839-342A>G | |
| ENST00000467735.2:n.235-342A>G | ||
| ENST00000563901.5:c.*634-342A>G | ENSP00000456249.1:n.*634-342A>G | |
| ENST00000564054.1:n.198-342A>G | ||
| NM_001301108.1:c.632-342A>G | NP_001288037.1:n.632-342A>G | |
| NM_001301109.1:c.863-342A>G | NP_001288038.1:n.863-342A>G | |
| NM_003027.4:c.839-342A>G | NP_003018.3:n.839-342A>G | |
| NR_125370.1:n.1342-342A>G | ||
| XM_011521888.1:c.863-342A>G | XP_011520190.1:n.863-342A>G | |
| XM_011521889.1:c.863-342A>G | XP_011520191.1:n.863-342A>G | |
| XM_011521890.1:c.734-342A>G | XP_011520192.1:n.734-342A>G | |
| XM_011521891.1:c.*45-342A>G | XP_011520193.1:n.*45-342A>G | |
| XR_931878.1:n.1598-342A>G | ||
| XR_931879.1:n.1768-342A>G | ||
| XR_931880.1:n.1784-342A>G | ||
| XR_931882.1:n.1494-342A>G | ||
| NM_001324182.1:c.1009-342A>G | NP_001311111.1:n.1009-342A>G | |
| NM_001324183.1:c.863-342A>G | NP_001311112.1:n.863-342A>G | |
| NM_001324184.1:c.734-342A>G | NP_001311113.1:n.734-342A>G | |
| NM_001324185.1:c.632-342A>G | NP_001311114.1:n.632-342A>G | |
| NM_001324186.1:c.734-342A>G | NP_001311115.1:n.734-342A>G | |
| NM_001324187.1:c.632-342A>G | NP_001311116.1:n.632-342A>G | |
| NR_136711.1:n.1486-342A>G | ||
| NR_136712.1:n.1673-342A>G | ||
| NR_136713.1:n.1335-342A>G | ||
| NR_136714.1:n.1294-342A>G | ||
| XM_011521891.2:c.*45-342A>G | XP_011520193.1:n.*45-342A>G | |
| XM_017022486.2:c.632-342A>G | XP_016877975.1:n.632-342A>G | |
| XM_024450017.1:c.*45-342A>G | XP_024305785.1:n.*45-342A>G | |
| XR_001751372.1:n.1772-342A>G | ||
| XR_001751373.1:n.1534-342A>G | ||
| XR_001751374.2:n.1436-342A>G | ||
| XR_001751375.1:n.1376-342A>G | ||
| XR_002957669.1:n.1664-342A>G | ||
| XR_931878.2:n.1598-342A>G | ||
| XR_931879.2:n.1768-342A>G | ||
| XR_931882.2:n.1494-342A>G | ||
| NM_003027.5:c.839-342A>G MANE Select | NP_003018.3:n.839-342A>G | |
| NM_001301108.2:c.632-342A>G | NP_001288037.1:n.632-342A>G | |
| NM_001301109.2:c.863-342A>G | NP_001288038.1:n.863-342A>G | |
| NM_001324182.2:c.1009-342A>G | NP_001311111.1:n.1009-342A>G | |
| NM_001324183.2:c.863-342A>G | NP_001311112.1:n.863-342A>G | |
| NM_001324184.2:c.734-342A>G | NP_001311113.1:n.734-342A>G | |
| NM_001324185.2:c.632-342A>G | NP_001311114.1:n.632-342A>G | |
| NM_001324186.2:c.734-342A>G | NP_001311115.1:n.734-342A>G | |
| NR_125370.2:n.1229-342A>G | ||
| NR_136711.2:n.1373-342A>G | ||
| NR_136712.2:n.1560-342A>G | ||
| NR_136713.2:n.1222-342A>G | ||
| NR_136714.2:n.1181-342A>G |