gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66958624 (AMR)
Genomes Max Group AF
0.66958624 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66224436A>G , CM000674.2:g.66224436A>G | GRCh38 |
| NC_000012.11:g.66618216A>G , CM000674.1:g.66618216A>G | GRCh37 |
| NC_000012.10:g.64904483A>G | NCBI36 |
| NG_021194.1:g.40239A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261233.9:c.654-2287A>G MANE Select | ENSP00000261233.4:n.654-2287A>G | |
| ENST00000261233.8:c.654-2287A>G | ENSP00000261233.4:n.654-2287A>G | |
| ENST00000457197.2:c.471-2287A>G | ENSP00000409852.2:n.471-2287A>G | |
| NM_001142523.1:c.471-2287A>G | NP_001135995.1:n.471-2287A>G | |
| NM_007199.2:c.654-2287A>G | NP_009130.2:n.654-2287A>G | |
| NM_001142523.2:c.471-2287A>G | NP_001135995.1:n.471-2287A>G | |
| NM_007199.3:c.654-2287A>G MANE Select | NP_009130.2:n.654-2287A>G |