gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8229585 (AFR)
Genomes Max Group AF
0.8229585 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.9798081G>A , CM000682.2:g.9798081G>A | GRCh38 |
| NC_000020.10:g.9778729G>A , CM000682.1:g.9778729G>A | GRCh37 |
| NC_000020.9:g.9726729G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353224.10:c.-162+40681C>T MANE Select | ENSP00000322957.5:n.-162+40681C>T | |
| ENST00000353224.9:c.-162+40681C>T | ENSP00000322957.5:n.-162+40681C>T | |
| ENST00000378423.5:c.-310-13575C>T | ENSP00000367679.1:n.-310-13575C>T | |
| ENST00000378429.3:c.-162+20599C>T | ENSP00000367686.3:n.-162+20599C>T | |
| NM_020341.3:c.-162+20599C>T | NP_065074.1:n.-162+20599C>T | |
| NM_177990.2:c.-162+40681C>T | NP_817127.1:n.-162+40681C>T | |
| XM_005260766.3:c.-162+40650C>T | XP_005260823.1:n.-162+40650C>T | |
| XM_006723597.2:c.-217+20599C>T | XP_006723660.1:n.-217+20599C>T | |
| XM_017027960.1:c.-268+20599C>T | XP_016883449.1:n.-268+20599C>T | |
| XM_017027961.1:c.-323+20599C>T | XP_016883450.1:n.-323+20599C>T | |
| XM_017027962.1:c.-214+20599C>T | XP_016883451.1:n.-214+20599C>T | |
| NM_020341.4:c.-162+20599C>T | NP_065074.1:n.-162+20599C>T | |
| NM_177990.3:c.-162+40681C>T | NP_817127.1:n.-162+40681C>T | |
| NM_020341.5:c.-162+20599C>T | NP_065074.1:n.-162+20599C>T | |
| NM_177990.4:c.-162+40681C>T MANE Select | NP_817127.1:n.-162+40681C>T |