dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41674256 (AFR)
Genomes Max Group AF
0.41674256 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78334025G>C , CM000673.2:g.78334025G>C | GRCh38 |
| NC_000011.9:g.78045071G>C , CM000673.1:g.78045071G>C | GRCh37 |
| NC_000011.8:g.77722719G>C | NCBI36 |
| NG_016171.1:g.88798C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361507.5:c.76-53124C>G MANE Select | ENSP00000354952.4:n.76-53124C>G | |
| ENST00000340149.6:c.-40+7735C>G | ENSP00000343959.2:n.-40+7735C>G | |
| ENST00000361507.4:c.76-53124C>G | ENSP00000354952.4:n.76-53124C>G | |
| ENST00000526030.1:n.178-15806C>G | ||
| ENST00000528886.5:c.-39-53124C>G | ENSP00000433762.1:n.-39-53124C>G | |
| ENST00000530915.1:c.-40+29991C>G | ENSP00000431868.1:n.-40+29991C>G | |
| ENST00000534823.1:n.127-53124C>G | ||
| NM_012296.3:c.-40+7735C>G | NP_036428.1:n.-40+7735C>G | |
| NM_080491.2:c.76-53124C>G | NP_536739.1:n.76-53124C>G | |
| XM_006718753.1:c.-40+29991C>G | XP_006718816.1:n.-40+29991C>G | |
| XM_006718753.2:c.-40+29991C>G | XP_006718816.1:n.-40+29991C>G | |
| XM_024448782.1:c.21+20709C>G | XP_024304550.1:n.21+20709C>G | |
| NM_080491.3:c.76-53124C>G MANE Select | NP_536739.1:n.76-53124C>G | |
| NM_012296.4:c.-40+7735C>G | NP_036428.1:n.-40+7735C>G |