gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64514244 (SAS)
Genomes Max Group AF
0.64514244 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30517290A>G , CM000678.2:g.30517290A>G | GRCh38 |
| NC_000016.9:g.30528611A>G , CM000678.1:g.30528611A>G | GRCh37 |
| NC_000016.8:g.30436112A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356798.11:c.2976+204A>G MANE Select | ENSP00000349252.5:n.2976+204A>G | |
| ENST00000676652.1:c.5471+204A>G | ||
| ENST00000677830.1:c.*2042+204A>G | ENSP00000503623.1:n.*2042+204A>G | |
| ENST00000678203.1:c.*2717+204A>G | ENSP00000504379.1:n.*2717+204A>G | |
| ENST00000678574.1:n.303+204A>G | ||
| ENST00000679323.1:c.573-359A>G | ||
| ENST00000356798.10:c.2976+204A>G | ENSP00000349252.5:n.2976+204A>G | |
| ENST00000358164.9:c.2724+204A>G | ENSP00000350886.5:n.2724+204A>G | |
| ENST00000433423.2:c.678+204A>G | ENSP00000409377.2:n.678+204A>G | |
| NM_001114380.1:c.2724+204A>G | NP_001107852.1:n.2724+204A>G | |
| NM_002209.2:c.2976+204A>G | NP_002200.2:n.2976+204A>G | |
| XM_005255313.1:c.2973+204A>G | XP_005255370.1:n.2973+204A>G | |
| XM_006721044.1:c.2727+204A>G | XP_006721107.1:n.2727+204A>G | |
| XM_011545849.1:c.2688+204A>G | XP_011544151.1:n.2688+204A>G | |
| XM_024450262.1:c.2688+204A>G | XP_024306030.1:n.2688+204A>G | |
| NM_001114380.2:c.2724+204A>G | NP_001107852.1:n.2724+204A>G | |
| NM_002209.3:c.2976+204A>G MANE Select | NP_002200.2:n.2976+204A>G |