gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35439251 (AFR)
Genomes Max Group AF
0.35439251 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.38452792C>G , CM000667.2:g.38452792C>G | GRCh38 |
| NC_000005.9:g.38452894C>G , CM000667.1:g.38452894C>G | GRCh37 |
| NC_000005.8:g.38488651C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322350.10:c.2687+1334C>G MANE Select | ENSP00000313084.5:n.2687+1334C>G | |
| ENST00000322350.9:c.2687+1334C>G | ENSP00000313084.5:n.2687+1334C>G | |
| ENST00000336740.10:c.1985+1334C>G | ENSP00000337607.6:n.1985+1334C>G | |
| ENST00000354891.7:c.2711+1334C>G | ENSP00000346964.3:n.2711+1334C>G | |
| ENST00000397202.6:c.785+1334C>G | ENSP00000380385.2:n.785+1334C>G | |
| ENST00000397210.7:c.116+1334C>G | ENSP00000380393.3:n.116+1334C>G | |
| ENST00000506135.5:c.116+1334C>G | ENSP00000425579.1:n.116+1334C>G | |
| ENST00000508131.5:c.116+1334C>G | ENSP00000427228.1:n.116+1334C>G | |
| ENST00000514476.1:c.116+1334C>G | ENSP00000423228.1:n.116+1334C>G | |
| NM_001205301.1:c.2711+1334C>G | NP_001192230.1:n.2711+1334C>G | |
| NM_152403.3:c.2687+1334C>G | NP_689616.2:n.2687+1334C>G | |
| NM_182798.2:c.1985+1334C>G | NP_877950.1:n.1985+1334C>G | |
| NM_182801.2:c.116+1334C>G | NP_877953.1:n.116+1334C>G | |
| NM_152403.4:c.2687+1334C>G MANE Select | NP_689616.2:n.2687+1334C>G | |
| NM_001205301.2:c.2711+1334C>G | NP_001192230.1:n.2711+1334C>G | |
| NM_182798.3:c.1985+1334C>G | NP_877950.1:n.1985+1334C>G | |
| NM_182801.3:c.116+1334C>G | NP_877953.1:n.116+1334C>G |