gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4320488 (NFE)
Genomes Max Group AF
0.4320488 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94921652G>A , CM000663.2:g.94921652G>A | GRCh38 |
| NC_000001.10:g.95387208G>A , CM000663.1:g.95387208G>A | GRCh37 |
| NC_000001.9:g.95159796G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370206.9:c.57+5186C>T MANE Select | ENSP00000359225.4:n.57+5186C>T | |
| ENST00000370206.8:c.57+5186C>T | ENSP00000359225.4:n.57+5186C>T | |
| ENST00000394202.8:c.57+5186C>T | ENSP00000377752.4:n.57+5186C>T | |
| ENST00000415017.1:c.-67+3981C>T | ENSP00000401452.1:n.-67+3981C>T | |
| ENST00000474409.1:n.274+2522C>T | ||
| ENST00000545882.5:c.-67+3981C>T | ENSP00000440081.1:n.-67+3981C>T | |
| NM_001286055.1:c.57+5186C>T | NP_001272984.1:n.57+5186C>T | |
| NM_001286056.1:c.-67+3981C>T | NP_001272985.1:n.-67+3981C>T | |
| NM_001839.4:c.57+5186C>T | NP_001830.1:n.57+5186C>T | |
| XM_017000245.2:c.-209+1216C>T | XP_016855734.1:n.-209+1216C>T | |
| NM_001839.5:c.57+5186C>T MANE Select | NP_001830.1:n.57+5186C>T | |
| NM_001286055.2:c.57+5186C>T | NP_001272984.1:n.57+5186C>T | |
| NM_001286056.2:c.-67+3981C>T | NP_001272985.1:n.-67+3981C>T |