gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59790723 (EAS)
Genomes Max Group AF
0.59790723 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10736809T>C , CM000663.2:g.10736809T>C | GRCh38 |
| NC_000001.10:g.10796866T>C , CM000663.1:g.10796866T>C | GRCh37 |
| NC_000001.9:g.10719453T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377022.8:c.-77+23892A>G MANE Select | ENSP00000366221.3:n.-77+23892A>G | |
| ENST00000344008.5:c.-77+23892A>G | ENSP00000339445.5:n.-77+23892A>G | |
| ENST00000377022.7:c.-77+23892A>G | ENSP00000366221.3:n.-77+23892A>G | |
| NM_001079843.2:c.-77+23892A>G | NP_001073312.1:n.-77+23892A>G | |
| NM_017766.4:c.-77+23892A>G | NP_060236.3:n.-77+23892A>G | |
| XM_006710712.2:c.-77+23892A>G | XP_006710775.1:n.-77+23892A>G | |
| XM_017001540.2:c.-77+23892A>G | XP_016857029.1:n.-77+23892A>G | |
| XM_017001541.2:c.-77+23892A>G | XP_016857030.1:n.-77+23892A>G | |
| NM_001079843.3:c.-77+23892A>G MANE Select | NP_001073312.1:n.-77+23892A>G | |
| NM_017766.5:c.-77+23892A>G | NP_060236.3:n.-77+23892A>G |