gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.77861975 (AFR)
Genomes Max Group AF
0.77861975 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.61961417C>T , CM000672.2:g.61961417C>T | GRCh38 |
| NC_000010.10:g.63721176C>T , CM000672.1:g.63721176C>T | GRCh37 |
| NC_000010.9:g.63391182C>T | NCBI36 |
| NG_030027.1:g.65164C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279873.12:c.502+21009C>T MANE Select | ENSP00000279873.7:n.502+21009C>T | |
| ENST00000644638.1:c.502+21009C>T | ENSP00000494412.1:n.502+21009C>T | |
| ENST00000681100.1:c.502+21009C>T | ENSP00000506119.1:n.502+21009C>T | |
| ENST00000279873.11:c.502+21009C>T | ENSP00000279873.7:n.502+21009C>T | |
| NM_032199.2:c.502+21009C>T | NP_115575.1:n.502+21009C>T | |
| XM_011540262.1:c.502+21009C>T | XP_011538564.1:n.502+21009C>T | |
| XM_024448230.1:c.-66+21009C>T | XP_024303998.1:n.-66+21009C>T | |
| NM_032199.3:c.502+21009C>T MANE Select | NP_115575.1:n.502+21009C>T |