gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00118468 (AFR)
Genomes Max Group AF
0.00009488 (AFR)
Exomes Max Group AF
0.00313706 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19708752G>A , CM000686.2:g.19708752G>A | GRCh38 |
| NC_000024.9:g.21870638G>A , CM000686.1:g.21870638G>A | GRCh37 |
| NC_000024.8:g.20330026G>A | NCBI36 |
| NG_032920.1:g.41188C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317961.9:c.3081+123C>T MANE Select | ENSP00000322408.4:n.3081+123C>T | |
| ENST00000317961.8:c.3081+123C>T | ENSP00000322408.4:n.3081+123C>T | |
| ENST00000382806.6:c.2910+123C>T | ENSP00000372256.2:n.2910+123C>T | |
| ENST00000415360.1:c.75+123C>T | ENSP00000389433.1:n.75+123C>T | |
| ENST00000440077.5:c.2958+123C>T | ENSP00000398543.1:n.2958+123C>T | |
| ENST00000469599.6:n.1679+123C>T | ||
| ENST00000492117.1:n.2973+123C>T | ||
| ENST00000541639.5:c.3174+123C>T | ENSP00000444293.1:n.3174+123C>T | |
| NM_001146705.1:c.3174+123C>T | NP_001140177.1:n.3174+123C>T | |
| NM_001146706.1:c.2910+123C>T | NP_001140178.1:n.2910+123C>T | |
| NM_004653.4:c.3081+123C>T | NP_004644.2:n.3081+123C>T | |
| XM_005262560.1:c.2946+123C>T | XP_005262617.1:n.2946+123C>T | |
| XM_005262561.1:c.2850+123C>T | XP_005262618.1:n.2850+123C>T | |
| XM_011531468.1:c.3081+123C>T | XP_011529770.1:n.3081+123C>T | |
| XR_244571.2:n.3369+123C>T | ||
| XR_430568.2:n.3703+123C>T | ||
| XM_005262560.3:c.2946+123C>T | XP_005262617.1:n.2946+123C>T | |
| XM_005262561.3:c.2850+123C>T | XP_005262618.1:n.2850+123C>T | |
| XM_011531468.3:c.3081+123C>T | XP_011529770.1:n.3081+123C>T | |
| XM_024452495.1:c.1071+123C>T | XP_024308263.1:n.1071+123C>T | |
| XM_024452496.1:c.837+123C>T | XP_024308264.1:n.837+123C>T | |
| XR_001756009.2:n.3819+123C>T | ||
| XR_001756010.2:n.3819+123C>T | ||
| XR_001756011.2:n.3684+123C>T | ||
| XR_001756012.2:n.3832+123C>T | ||
| XR_001756013.2:n.3150+123C>T | ||
| XR_002958832.1:n.3251+123C>T | ||
| XR_002958834.1:n.3475+123C>T | ||
| XR_002958835.1:n.3358+123C>T | ||
| XR_002958836.1:n.4041+123C>T | ||
| XR_002958837.1:n.3926+123C>T | ||
| XR_244571.4:n.3368+123C>T | ||
| XR_430568.4:n.3702+123C>T | ||
| NM_001146706.2:c.2910+123C>T | NP_001140178.1:n.2910+123C>T | |
| NM_004653.5:c.3081+123C>T MANE Select | NP_004644.2:n.3081+123C>T | |
| NM_001146705.2:c.3174+123C>T | NP_001140177.1:n.3174+123C>T |