gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69062513 (EAS)
Genomes Max Group AF
0.69062513 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10994782G>C , CM000668.2:g.10994782G>C | GRCh38 |
| NC_000006.11:g.10995015G>C , CM000668.1:g.10995015G>C | GRCh37 |
| NC_000006.10:g.11103001G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354666.4:c.505+225C>G MANE Select | ENSP00000346693.3:n.505+225C>G | |
| ENST00000354666.3:c.505+225C>G | ENSP00000346693.3:n.505+225C>G | |
| NM_017770.3:c.505+225C>G | NP_060240.3:n.505+225C>G | |
| XM_011514716.1:c.595+225C>G | XP_011513018.1:n.595+225C>G | |
| XM_011514717.1:c.508+225C>G | XP_011513019.1:n.508+225C>G | |
| XM_011514716.3:c.595+225C>G | XP_011513018.1:n.595+225C>G | |
| XM_011514717.3:c.508+225C>G | XP_011513019.1:n.508+225C>G | |
| NM_017770.4:c.505+225C>G MANE Select | NP_060240.3:n.505+225C>G |