gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07262317 (AFR)
Genomes Max Group AF
0.07262317 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.44370393A>C , CM000672.2:g.44370393A>C | GRCh38 |
| NC_000010.10:g.44865841A>C , CM000672.1:g.44865841A>C | GRCh37 |
| NC_000010.9:g.44185847A>C | NCBI36 |
| NG_016861.1:g.19705T>G | |
| NG_016861.2:g.19705T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374429.6:c.*2935T>G | ENSP00000363551.2:n.*2935T>G | |
| NM_000609.6:c.*2935T>G | NP_000600.1:n.*2935T>G | |
| NM_001277990.1:c.*2495T>G | NP_001264919.1:n.*2495T>G | |
| XR_001747171.1:n.331+8244T>G | ||
| XR_001747172.1:n.331+8244T>G | ||
| XR_001747173.1:n.331+8244T>G | ||
| XR_001747174.1:n.331+8244T>G | ||
| NM_000609.7:c.*2935T>G | NP_000600.1:n.*2935T>G | |
| NM_001277990.2:c.*2495T>G | NP_001264919.1:n.*2495T>G |