gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23409813 (NFE)
Genomes Max Group AF
0.23409813 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27797673T>C , CM000679.2:g.27797673T>C | GRCh38 |
| NC_000017.10:g.26124699T>C , CM000679.1:g.26124699T>C | GRCh37 |
| NC_000017.9:g.23148826T>C | NCBI36 |
| NG_011470.1:g.7857A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697337.1:c.110+1027A>G | ENSP00000513259.1:n.110+1027A>G | |
| ENST00000313735.11:c.110+1027A>G MANE Select | ENSP00000327251.6:n.110+1027A>G | |
| ENST00000313735.10:c.110+1027A>G | ENSP00000327251.6:n.110+1027A>G | |
| ENST00000621962.1:c.110+1027A>G | ENSP00000482291.1:n.110+1027A>G | |
| NM_000625.4:c.110+1027A>G MANE Select | NP_000616.3:n.110+1027A>G | |
| XM_011524859.1:c.110+1027A>G | XP_011523161.1:n.110+1027A>G | |
| XM_011524861.1:c.110+1027A>G | XP_011523163.1:n.110+1027A>G |