gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38631371 (AFR)
Genomes Max Group AF
0.38631371 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.46392884G>A , CM000684.2:g.46392884G>A | GRCh38 |
| NC_000022.10:g.46788781G>A , CM000684.1:g.46788781G>A | GRCh37 |
| NC_000022.9:g.45167445G>A | NCBI36 |
| NG_030466.1:g.149287C>T | |
| NG_030466.2:g.149287C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262738.9:c.5965-1068C>T | ENSP00000262738.3:n.5965-1068C>T | |
| ENST00000674312.1:c.525-1068C>T | ||
| ENST00000674341.1:n.1042-1068C>T | ||
| ENST00000674359.1:c.978-1068C>T | ||
| ENST00000674500.2:c.5965-1068C>T MANE Select | ENSP00000501367.2:n.5965-1068C>T | |
| ENST00000262738.7:c.5965-1068C>T | ENSP00000262738.3:n.5965-1068C>T | |
| NM_014246.1:c.5965-1068C>T | NP_055061.1:n.5965-1068C>T | |
| XM_006724383.2:c.5965-1068C>T | XP_006724446.1:n.5965-1068C>T | |
| XM_011530553.1:c.5965-1068C>T | XP_011528855.1:n.5965-1068C>T | |
| XM_011530554.1:c.2458-1068C>T | XP_011528856.1:n.2458-1068C>T | |
| XM_011530555.1:c.2362-1068C>T | XP_011528857.1:n.2362-1068C>T | |
| XM_006724383.3:c.5965-1068C>T | XP_006724446.1:n.5965-1068C>T | |
| XM_011530554.2:c.2458-1068C>T | XP_011528856.1:n.2458-1068C>T | |
| XM_011530555.2:c.2362-1068C>T | XP_011528857.1:n.2362-1068C>T | |
| NM_014246.2:c.5965-1068C>T | NP_055061.1:n.5965-1068C>T | |
| NM_014246.3:c.5965-1068C>T | NP_055061.1:n.5965-1068C>T | |
| NM_001378328.1:c.5965-1068C>T MANE Select | NP_001365257.1:n.5965-1068C>T | |
| NM_014246.4:c.5965-1068C>T | NP_055061.1:n.5965-1068C>T |