gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57043894 (AFR)
Genomes Max Group AF
0.57043894 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.48671066A>C , CM000684.2:g.48671066A>C | GRCh38 |
| NC_000022.10:g.49066878A>C , CM000684.1:g.49066878A>C | GRCh37 |
| NC_000022.9:g.47453314A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402357.6:c.262+24320A>C MANE Select | ENSP00000383933.2:n.262+24320A>C | |
| ENST00000336769.9:c.262+24320A>C | ENSP00000336812.5:n.262+24320A>C | |
| ENST00000358295.9:c.241+24320A>C | ENSP00000351043.5:n.241+24320A>C | |
| ENST00000402357.5:c.262+24320A>C | ENSP00000383933.1:n.262+24320A>C | |
| ENST00000473898.1:n.120-36651A>C | ||
| NM_001082967.2:c.262+24320A>C | NP_001076436.1:n.262+24320A>C | |
| NM_015381.6:c.241+24320A>C | NP_056196.2:n.241+24320A>C | |
| NM_001082967.3:c.262+24320A>C MANE Select | NP_001076436.1:n.262+24320A>C | |
| NM_015381.7:c.241+24320A>C | NP_056196.2:n.241+24320A>C |