gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30493747 (AMR)
Genomes Max Group AF
0.30493747 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33656956A>G , CM000668.2:g.33656956A>G | GRCh38 |
| NC_000006.11:g.33624733A>G , CM000668.1:g.33624733A>G | GRCh37 |
| NC_000006.10:g.33732711A>G | NCBI36 |
| NG_027729.1:g.40578A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000605930.3:c.283-976A>G MANE Select | ENSP00000475177.1:n.283-976A>G | |
| ENST00000374316.9:c.283-976A>G | ENSP00000363435.4:n.283-976A>G | |
| ENST00000605930.2:c.283-976A>G | ENSP00000475177.1:n.283-976A>G | |
| NM_002224.3:c.283-976A>G | NP_002215.2:n.283-976A>G | |
| XM_011514576.1:c.352-976A>G | XP_011512878.1:n.352-976A>G | |
| XM_011514577.1:c.100-976A>G | XP_011512879.1:n.100-976A>G | |
| XM_011514577.3:c.100-976A>G | XP_011512879.1:n.100-976A>G | |
| XM_017010832.1:c.283-976A>G | XP_016866321.1:n.283-976A>G | |
| NM_002224.4:c.283-976A>G MANE Select | NP_002215.2:n.283-976A>G |