gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33448999 (AFR)
Genomes Max Group AF
0.33448999 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62501439A>C , CM000672.2:g.62501439A>C | GRCh38 |
| NC_000010.10:g.64261198A>C , CM000672.1:g.64261198A>C | GRCh37 |
| NC_000010.9:g.63931204A>C | NCBI36 |
| NG_021209.1:g.132283A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647733.1:c.981+41642A>C | ENSP00000502188.1:n.981+41642A>C | |
| ENST00000410046.7:c.981+41642A>C | ENSP00000387091.3:n.981+41642A>C | |
| NM_199451.2:c.981+41642A>C | NP_955523.1:n.981+41642A>C | |
| XM_017015937.2:c.981+41642A>C | XP_016871426.1:n.981+41642A>C | |
| NM_199451.3:c.981+41642A>C | NP_955523.1:n.981+41642A>C |