gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.05372603 (NFE)
Genomes Max Group AF
0.05372603 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.65238814C>A , CM000667.2:g.65238814C>A | GRCh38 |
| NC_000005.9:g.64534641C>A , CM000667.1:g.64534641C>A | GRCh37 |
| NC_000005.8:g.64570397C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381055.8:c.1933+3290G>T MANE Select | ENSP00000370443.3:n.1933+3290G>T | |
| ENST00000381052.8:c.*1205+3290G>T | ENSP00000424377.1:n.*1205+3290G>T | |
| ENST00000381055.7:c.1933+3290G>T | ENSP00000370443.3:n.1933+3290G>T | |
| ENST00000464680.6:n.1951+3290G>T | ||
| ENST00000470597.5:n.1812+3290G>T | ||
| NM_197941.2:c.1933+3290G>T | NP_922932.2:n.1933+3290G>T | |
| XM_011543113.1:c.1933+3290G>T | XP_011541415.1:n.1933+3290G>T | |
| XM_011543114.1:c.1933+3290G>T | XP_011541416.1:n.1933+3290G>T | |
| XM_011543115.1:c.1783+3290G>T | XP_011541417.1:n.1783+3290G>T | |
| XM_011543116.1:c.1645+3290G>T | XP_011541418.1:n.1645+3290G>T | |
| XM_011543117.1:c.1480+3290G>T | XP_011541419.1:n.1480+3290G>T | |
| XM_011543118.1:c.1933+3290G>T | XP_011541420.1:n.1933+3290G>T | |
| XM_011543119.1:c.1933+3290G>T | XP_011541421.1:n.1933+3290G>T | |
| XM_011543120.1:c.1933+3290G>T | XP_011541422.1:n.1933+3290G>T | |
| XM_011543121.1:c.1159+3290G>T | XP_011541423.1:n.1159+3290G>T | |
| XM_011543122.1:c.1933+3290G>T | XP_011541424.1:n.1933+3290G>T | |
| XM_011543123.1:c.796+3290G>T | XP_011541425.1:n.796+3290G>T | |
| XM_011543124.1:c.601+3290G>T | XP_011541426.1:n.601+3290G>T | |
| XM_011543125.1:c.466+3290G>T | XP_011541427.1:n.466+3290G>T | |
| XM_011543127.1:c.1831-12595G>T | XP_011541429.1:n.1831-12595G>T | |
| XR_948232.1:n.2888+3290G>T | ||
| NM_197941.3:c.1933+3290G>T | NP_922932.2:n.1933+3290G>T | |
| NR_135689.1:n.2941+3290G>T | ||
| XM_011543113.3:c.1933+3290G>T | XP_011541415.1:n.1933+3290G>T | |
| XM_011543114.3:c.1933+3290G>T | XP_011541416.1:n.1933+3290G>T | |
| XM_011543115.3:c.1783+3290G>T | XP_011541417.1:n.1783+3290G>T | |
| XM_011543116.3:c.1645+3290G>T | XP_011541418.1:n.1645+3290G>T | |
| XM_011543117.2:c.1480+3290G>T | XP_011541419.1:n.1480+3290G>T | |
| XM_011543119.3:c.1933+3290G>T | XP_011541421.1:n.1933+3290G>T | |
| XM_011543120.3:c.1933+3290G>T | XP_011541422.1:n.1933+3290G>T | |
| XM_011543121.2:c.1171+3290G>T | XP_011541423.2:n.1171+3290G>T | |
| XM_011543122.3:c.1933+3290G>T | XP_011541424.1:n.1933+3290G>T | |
| XM_011543123.2:c.796+3290G>T | XP_011541425.1:n.796+3290G>T | |
| XM_011543124.2:c.601+3290G>T | XP_011541426.1:n.601+3290G>T | |
| XM_011543127.3:c.1831-12595G>T | XP_011541429.1:n.1831-12595G>T | |
| XR_948232.3:n.2843+3290G>T | ||
| NM_197941.4:c.1933+3290G>T MANE Select | NP_922932.2:n.1933+3290G>T | |
| NR_135689.2:n.2941+3290G>T |