gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13567166 (AFR)
Genomes Max Group AF
0.13563778 (AFR)
Exomes Max Group AF
0.08884008 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23302607C>T , CM000684.2:g.23302607C>T | GRCh38 |
| NC_000022.10:g.23644794C>T , CM000684.1:g.23644794C>T | GRCh37 |
| NC_000022.9:g.21974794C>T | NCBI36 |
| NG_009244.1:g.127243C>T | |
| NG_009244.2:g.127243C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305877.13:c.3013-6817C>T MANE Select | ENSP00000303507.8:n.3013-6817C>T | |
| ENST00000305877.12:c.3013-6817C>T | ENSP00000303507.8:n.3013-6817C>T | |
| ENST00000359540.7:c.2881-6817C>T | ENSP00000352535.3:n.2881-6817C>T | |
| ENST00000398512.9:c.1709-6817C>T | ENSP00000381524.6:n.1709-6817C>T | |
| ENST00000419722.6:n.238-6817C>T | ||
| ENST00000471452.1:n.382C>T | ||
| NM_004327.3:c.3013-6817C>T | NP_004318.3:n.3013-6817C>T | |
| NM_021574.2:c.2881-6817C>T | NP_067585.2:n.2881-6817C>T | |
| NM_004327.4:c.3013-6817C>T MANE Select | NP_004318.3:n.3013-6817C>T | |
| NM_021574.3:c.2881-6817C>T | NP_067585.2:n.2881-6817C>T |