gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61065444 (AMR)
Genomes Max Group AF
0.61065444 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148005600A>G , CM000669.2:g.148005600A>G | GRCh38 |
| NC_000007.13:g.147702692A>G , CM000669.1:g.147702692A>G | GRCh37 |
| NC_000007.12:g.147333625A>G | NCBI36 |
| NG_007092.2:g.1894240A>G | |
| NG_007092.3:g.1894600A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.2383+27611A>G MANE Select | ENSP00000354778.3:n.2383+27611A>G | |
| ENST00000636870.1:n.2245+27611A>G | ||
| ENST00000637825.1:n.1867-7571A>G | ||
| ENST00000361727.7:c.2383+27611A>G | ENSP00000354778.3:n.2383+27611A>G | |
| ENST00000627772.2:n.556+27611A>G | ||
| NM_014141.5:c.2383+27611A>G | NP_054860.1:n.2383+27611A>G | |
| XM_006715919.1:c.871+27611A>G | XP_006715982.1:n.871+27611A>G | |
| NM_014141.6:c.2383+27611A>G MANE Select | NP_054860.1:n.2383+27611A>G |