gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58912511 (AFR)
Genomes Max Group AF
0.58912511 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.46399244C>A , CM000684.2:g.46399244C>A | GRCh38 |
| NC_000022.10:g.46795141C>A , CM000684.1:g.46795141C>A | GRCh37 |
| NC_000022.9:g.45173805C>A | NCBI36 |
| NG_030466.1:g.142927G>T | |
| NG_030466.2:g.142927G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262738.9:c.5412+473G>T | ENSP00000262738.3:n.5412+473G>T | |
| ENST00000674341.1:n.489+473G>T | ||
| ENST00000674359.1:c.425+473G>T | ||
| ENST00000674500.2:c.5412+473G>T MANE Select | ENSP00000501367.2:n.5412+473G>T | |
| ENST00000262738.7:c.5412+473G>T | ENSP00000262738.3:n.5412+473G>T | |
| NM_014246.1:c.5412+473G>T | NP_055061.1:n.5412+473G>T | |
| XM_006724383.2:c.5412+473G>T | XP_006724446.1:n.5412+473G>T | |
| XM_011530553.1:c.5412+473G>T | XP_011528855.1:n.5412+473G>T | |
| XM_011530554.1:c.1905+473G>T | XP_011528856.1:n.1905+473G>T | |
| XM_011530555.1:c.1809+473G>T | XP_011528857.1:n.1809+473G>T | |
| XM_006724383.3:c.5412+473G>T | XP_006724446.1:n.5412+473G>T | |
| XM_011530554.2:c.1905+473G>T | XP_011528856.1:n.1905+473G>T | |
| XM_011530555.2:c.1809+473G>T | XP_011528857.1:n.1809+473G>T | |
| NM_014246.2:c.5412+473G>T | NP_055061.1:n.5412+473G>T | |
| NM_014246.3:c.5412+473G>T | NP_055061.1:n.5412+473G>T | |
| NM_001378328.1:c.5412+473G>T MANE Select | NP_001365257.1:n.5412+473G>T | |
| NM_014246.4:c.5412+473G>T | NP_055061.1:n.5412+473G>T |