gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13987672 (AMR)
Genomes Max Group AF
0.13987672 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56214829C>T , CM000667.2:g.56214829C>T | GRCh38 |
| NC_000005.9:g.55510656C>T , CM000667.1:g.55510656C>T | GRCh37 |
| NC_000005.8:g.55546413C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341048.9:c.58+18027G>A MANE Select | ENSP00000342295.4:n.58+18027G>A | |
| ENST00000341048.8:c.58+18027G>A | ENSP00000342295.4:n.58+18027G>A | |
| ENST00000504958.6:c.58+18027G>A | ENSP00000424230.1:n.58+18027G>A | |
| ENST00000513241.2:c.-30+18412G>A | ENSP00000423507.2:n.-30+18412G>A | |
| ENST00000519114.1:n.178+18027G>A | ||
| NM_024669.2:c.58+18027G>A | NP_078945.2:n.58+18027G>A | |
| XM_017009852.1:c.58+18027G>A | XP_016865341.1:n.58+18027G>A | |
| XM_017009853.1:c.58+18027G>A | XP_016865342.1:n.58+18027G>A | |
| NM_024669.3:c.58+18027G>A MANE Select | NP_078945.2:n.58+18027G>A |