gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20372262 (AFR)
Genomes Max Group AF
0.20372262 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46594501G>A , CM000664.2:g.46594501G>A | GRCh38 |
| NC_000002.11:g.46821640G>A , CM000664.1:g.46821640G>A | GRCh37 |
| NC_000002.10:g.46675144G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281382.11:c.438-1918C>T MANE Select | ENSP00000281382.6:n.438-1918C>T | |
| ENST00000281382.10:c.438-1918C>T | ENSP00000281382.6:n.438-1918C>T | |
| ENST00000306465.8:c.438-1918C>T | ENSP00000302663.4:n.438-1918C>T | |
| ENST00000412717.1:c.*7-1918C>T | ENSP00000413202.1:n.*7-1918C>T | |
| ENST00000420164.5:c.48-1918C>T | ENSP00000410361.1:n.48-1918C>T | |
| NM_002643.3:c.438-1918C>T | NP_002634.1:n.438-1918C>T | |
| NM_173074.2:c.438-1918C>T | NP_775097.1:n.438-1918C>T | |
| XM_005264369.2:c.438-1918C>T | XP_005264426.1:n.438-1918C>T | |
| XM_011532908.1:c.438-1918C>T | XP_011531210.1:n.438-1918C>T | |
| XM_005264369.3:c.438-1918C>T | XP_005264426.1:n.438-1918C>T | |
| XM_011532908.3:c.438-1918C>T | XP_011531210.1:n.438-1918C>T | |
| NM_002643.4:c.438-1918C>T MANE Select | NP_002634.1:n.438-1918C>T | |
| NM_173074.3:c.438-1918C>T | NP_775097.1:n.438-1918C>T |