gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.98614224 (AFR)
Genomes Max Group AF
0.98614224 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149008736A>G , CM000664.2:g.149008736A>G | GRCh38 |
| NC_000002.11:g.149865250A>G , CM000664.1:g.149865250A>G | GRCh37 |
| NC_000002.10:g.149573496A>G | NCBI36 |
| NG_042216.1:g.138514A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435030.6:c.2550+669A>G MANE Select | ENSP00000393379.1:n.2550+669A>G | |
| ENST00000464066.6:n.2415+669A>G | ||
| ENST00000676503.1:n.500+669A>G | ||
| ENST00000676677.1:c.1854+669A>G | ENSP00000503401.1:n.1854+669A>G | |
| ENST00000676805.1:n.1357+669A>G | ||
| ENST00000677080.1:c.1203+669A>G | ENSP00000504288.1:n.1203+669A>G | |
| ENST00000677122.1:n.1788+669A>G | ||
| ENST00000677280.1:c.2547+669A>G | ENSP00000503955.1:n.2547+669A>G | |
| ENST00000677443.1:c.1206+669A>G | ENSP00000503234.1:n.1206+669A>G | |
| ENST00000677465.1:n.141+669A>G | ||
| ENST00000677474.1:n.1749+669A>G | ||
| ENST00000677705.1:n.3747+669A>G | ||
| ENST00000677747.1:c.*49+75A>G | ENSP00000504145.1:n.*49+75A>G | |
| ENST00000677843.1:c.2478+669A>G | ENSP00000504362.1:n.2478+669A>G | |
| ENST00000677862.1:n.263+669A>G | ||
| ENST00000677891.1:c.2550+669A>G | ENSP00000503013.1:n.2550+669A>G | |
| ENST00000678056.1:c.2481+669A>G | ENSP00000503535.1:n.2481+669A>G | |
| ENST00000678160.1:c.*373+669A>G | ENSP00000503636.1:n.*373+669A>G | |
| ENST00000678184.1:n.715+669A>G | ||
| ENST00000678363.1:n.973A>G | ||
| ENST00000678636.1:c.1861+669A>G | ENSP00000503196.1:n.1861+669A>G | |
| ENST00000678720.1:c.1206+669A>G | ENSP00000503797.1:n.1206+669A>G | |
| ENST00000678856.1:c.1206+669A>G | ENSP00000503589.1:n.1206+669A>G | |
| ENST00000678891.1:n.2535A>G | ||
| ENST00000679129.1:c.1854+669A>G | ENSP00000504291.1:n.1854+669A>G | |
| ENST00000679156.1:n.1175+669A>G | ||
| ENST00000679236.1:n.3052+669A>G | ||
| ENST00000435030.5:c.2550+669A>G | ENSP00000393379.1:n.2550+669A>G | |
| ENST00000464066.5:n.1897+669A>G | ||
| ENST00000482151.1:n.828+669A>G | ||
| NM_004522.2:c.2550+669A>G | NP_004513.1:n.2550+669A>G | |
| NR_111932.1:n.1967+669A>G | ||
| XM_011511157.1:c.1854+669A>G | XP_011509459.1:n.1854+669A>G | |
| XR_922926.1:n.2936+669A>G | ||
| XM_011511157.2:c.1854+669A>G | XP_011509459.1:n.1854+669A>G | |
| XM_017004062.1:c.2550+669A>G | XP_016859551.1:n.2550+669A>G | |
| NM_004522.3:c.2550+669A>G MANE Select | NP_004513.1:n.2550+669A>G | |
| NR_111932.2:n.1922+669A>G |