gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.84306079 (EAS)
Genomes Max Group AF
0.84306079 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53976834G>A , CM000667.2:g.53976834G>A | GRCh38 |
| NC_000005.9:g.53272664G>A , CM000667.1:g.53272664G>A | GRCh37 |
| NC_000005.8:g.53308421G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504924.6:c.463-90121C>T MANE Select | ENSP00000433427.1:n.463-90121C>T | |
| ENST00000502271.5:c.-75-90121C>T | ENSP00000473508.1:n.-75-90121C>T | |
| ENST00000504924.5:c.463-90121C>T | ENSP00000433427.1:n.463-90121C>T | |
| ENST00000507646.2:c.463-89451C>T | ENSP00000432680.1:n.463-89451C>T | |
| ENST00000510591.6:n.536-90121C>T | ||
| ENST00000620747.4:c.469-90127C>T | ENSP00000478984.1:n.469-90127C>T | |
| NM_019087.2:c.463-90121C>T | NP_061960.1:n.463-90121C>T | |
| XM_011543498.1:c.646-90121C>T | XP_011541800.1:n.646-90121C>T | |
| XM_011543499.1:c.589-90121C>T | XP_011541801.1:n.589-90121C>T | |
| XM_011543500.1:c.520-90121C>T | XP_011541802.1:n.520-90121C>T | |
| XM_011543498.2:c.646-90121C>T | XP_011541800.1:n.646-90121C>T | |
| XM_011543499.2:c.589-90121C>T | XP_011541801.1:n.589-90121C>T | |
| XM_011543500.2:c.520-90121C>T | XP_011541802.1:n.520-90121C>T | |
| XM_017009598.1:c.469-90121C>T | XP_016865087.1:n.469-90121C>T | |
| NM_019087.3:c.463-90121C>T MANE Select | NP_061960.1:n.463-90121C>T |