gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63997588 (AFR)
Genomes Max Group AF
0.63997588 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136041877C>T , CM000667.2:g.136041877C>T | GRCh38 |
| NC_000005.9:g.135377566C>T , CM000667.1:g.135377566C>T | GRCh37 |
| NC_000005.8:g.135405465C>T | NCBI36 |
| NG_012646.1:g.17983C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.234-2181C>T MANE Select | ENSP00000416330.2:n.234-2181C>T | |
| ENST00000442011.6:c.234-2181C>T | ENSP00000416330.2:n.234-2181C>T | |
| ENST00000504185.5:n.302-2181C>T | ||
| ENST00000506699.5:n.299-2181C>T | ||
| ENST00000507018.5:c.151-2181C>T | ||
| NM_000358.2:c.234-2181C>T | NP_000349.1:n.234-2181C>T | |
| NM_000358.3:c.234-2181C>T MANE Select | NP_000349.1:n.234-2181C>T |