gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22767022 (EAS)
Genomes Max Group AF
0.22767022 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42221237G>A , CM000683.2:g.42221237G>A | GRCh38 |
| NC_000021.8:g.43641347G>A , CM000683.1:g.43641347G>A | GRCh37 |
| NC_000021.7:g.42514416G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398449.8:c.42+1933G>A (ABCG1) MANE Select | ENSP00000381467.3:n.42+1933G>A | |
| ENST00000411330.1:n.65G>A (RNA5SP492) | ||
| ENST00000343687.7:c.75+1191G>A (ABCG1) | ENSP00000339744.3:n.75+1191G>A | |
| ENST00000347800.6:c.34-4434G>A (ABCG1) | ENSP00000291524.4:n.34-4434G>A | |
| ENST00000361802.6:c.42+1933G>A (ABCG1) | ENSP00000354995.2:n.42+1933G>A | |
| ENST00000398449.7:c.42+1933G>A (ABCG1) | ENSP00000381467.3:n.42+1933G>A | |
| ENST00000398457.6:c.49-4434G>A (ABCG1) | ENSP00000381475.2:n.49-4434G>A | |
| ENST00000450121.5:c.42+1933G>A (ABCG1) | ENSP00000414541.1:n.42+1933G>A | |
| ENST00000462050.5:n.227-4434G>A (ABCG1) | ||
| NM_004915.3:c.42+1933G>A (ABCG1) | NP_004906.3:n.42+1933G>A | |
| NM_016818.2:c.42+1933G>A (ABCG1) | NP_058198.2:n.42+1933G>A | |
| NM_207174.1:c.75+1191G>A (ABCG1) | NP_997057.1:n.75+1191G>A | |
| NM_207627.1:c.49-4434G>A (ABCG1) | NP_997510.1:n.49-4434G>A | |
| NM_207628.1:c.-24-4434G>A (ABCG1) | NP_997511.1:n.-24-4434G>A | |
| NM_207629.1:c.34-4434G>A (ABCG1) | NP_997512.1:n.34-4434G>A | |
| XM_011529806.1:c.75+1191G>A (ABCG1) | XP_011528108.1:n.75+1191G>A | |
| XM_011529807.1:c.75+1191G>A (ABCG1) | XP_011528109.1:n.75+1191G>A | |
| XR_937748.1:n.1657C>T | ||
| XM_011529807.3:c.75+1191G>A (ABCG1) | XP_011528109.1:n.75+1191G>A | |
| XR_937748.3:n.4425C>T | ||
| NM_004915.4:c.42+1933G>A (ABCG1) | NP_004906.3:n.42+1933G>A | |
| NM_016818.3:c.42+1933G>A (ABCG1) MANE Select | NP_058198.2:n.42+1933G>A | |
| NM_207627.2:c.49-4434G>A (ABCG1) | NP_997510.1:n.49-4434G>A | |
| NM_207629.2:c.34-4434G>A (ABCG1) | NP_997512.1:n.34-4434G>A |