gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16458619 (EAS)
Genomes Max Group AF
0.16458619 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.26927958T>C , CM000667.2:g.26927958T>C | GRCh38 |
| NC_000005.9:g.26928066T>C , CM000667.1:g.26928066T>C | GRCh37 |
| NC_000005.8:g.26963823T>C | NCBI36 |
| NG_046968.1:g.198241A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231021.9:c.229-12034A>G MANE Select | ENSP00000231021.4:n.229-12034A>G | |
| ENST00000231021.8:c.229-12034A>G | ENSP00000231021.4:n.229-12034A>G | |
| ENST00000505045.1:n.402-12034A>G | ||
| ENST00000511822.1:c.229-12034A>G | ENSP00000422538.1:n.229-12034A>G | |
| ENST00000513289.5:c.229-12034A>G | ENSP00000426239.1:n.229-12034A>G | |
| NM_016279.3:c.229-12034A>G | NP_057363.3:n.229-12034A>G | |
| XM_011513922.1:c.229-12034A>G | XP_011512224.1:n.229-12034A>G | |
| NM_016279.4:c.229-12034A>G MANE Select | NP_057363.3:n.229-12034A>G |