gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36627224 (AFR)
Genomes Max Group AF
0.36627224 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.42444015C>A , CM000682.2:g.42444015C>A | GRCh38 |
| NC_000020.10:g.41072655C>A , CM000682.1:g.41072655C>A | GRCh37 |
| NC_000020.9:g.40506069C>A | NCBI36 |
| NG_033880.1:g.750903G>T | |
| NG_033880.2:g.750903G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373187.6:c.1560+4205G>T MANE Select | ENSP00000362283.1:n.1560+4205G>T | |
| ENST00000356100.6:c.1560+4205G>T | ENSP00000348408.2:n.1560+4205G>T | |
| ENST00000373184.5:c.1560+4205G>T | ENSP00000362280.1:n.1560+4205G>T | |
| ENST00000373187.5:c.1560+4205G>T | ENSP00000362283.1:n.1560+4205G>T | |
| ENST00000373190.5:c.1560+4205G>T | ENSP00000362286.1:n.1560+4205G>T | |
| ENST00000373193.7:c.1560+4205G>T | ENSP00000362289.4:n.1560+4205G>T | |
| ENST00000373198.8:c.1560+4205G>T | ENSP00000362294.4:n.1560+4205G>T | |
| ENST00000373201.5:c.1560+4205G>T | ENSP00000362297.1:n.1560+4205G>T | |
| ENST00000612229.4:c.414+4205G>T | ENSP00000481466.1:n.414+4205G>T | |
| ENST00000617474.1:c.*1418+4205G>T | ENSP00000484248.1:n.*1418+4205G>T | |
| ENST00000618610.1:c.407+4205G>T | ||
| NM_007050.5:c.1560+4205G>T | NP_008981.4:n.1560+4205G>T | |
| NM_133170.3:c.1560+4205G>T | NP_573400.3:n.1560+4205G>T | |
| XM_011528511.1:c.1560+4205G>T | XP_011526813.1:n.1560+4205G>T | |
| XM_011528512.1:c.1560+4205G>T | XP_011526814.1:n.1560+4205G>T | |
| XM_011528513.1:c.1560+4205G>T | XP_011526815.1:n.1560+4205G>T | |
| XM_011528514.1:c.1560+4205G>T | XP_011526816.1:n.1560+4205G>T | |
| XM_011528515.1:c.1560+4205G>T | XP_011526817.1:n.1560+4205G>T | |
| XM_011528516.1:c.1560+4205G>T | XP_011526818.1:n.1560+4205G>T | |
| XM_017027611.1:c.1575+4205G>T | XP_016883100.1:n.1575+4205G>T | |
| XM_017027612.1:c.1575+4205G>T | XP_016883101.1:n.1575+4205G>T | |
| XM_017027613.1:c.1575+4205G>T | XP_016883102.1:n.1575+4205G>T | |
| XM_024451820.1:c.1560+4205G>T | XP_024307588.1:n.1560+4205G>T | |
| NM_007050.6:c.1560+4205G>T MANE Select | NP_008981.4:n.1560+4205G>T | |
| NM_133170.4:c.1560+4205G>T | NP_573400.3:n.1560+4205G>T | |
| NM_001394024.1:c.1560+4205G>T | NP_001380953.1:n.1560+4205G>T | |
| NM_001394025.1:c.1560+4205G>T | NP_001380954.1:n.1560+4205G>T | |
| NM_001394026.1:c.1560+4205G>T | NP_001380955.1:n.1560+4205G>T |