gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24083844 (EAS)
Genomes Max Group AF
0.24083844 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30837866C>G , CM000665.2:g.30837866C>G | GRCh38 |
| NC_000003.11:g.30879358C>G , CM000665.1:g.30879358C>G | GRCh37 |
| NC_000003.10:g.30854362C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282538.10:c.903+1131G>C MANE Select | ENSP00000282538.5:n.903+1131G>C | |
| ENST00000282538.9:c.903+1131G>C | ENSP00000282538.5:n.903+1131G>C | |
| ENST00000454381.3:c.903+1131G>C | ENSP00000427059.1:n.903+1131G>C | |
| NM_207359.2:c.903+1131G>C | NP_997242.2:n.903+1131G>C | |
| XM_017006297.1:c.846+1131G>C | XP_016861786.1:n.846+1131G>C | |
| XM_017006298.1:c.165+1131G>C | XP_016861787.1:n.165+1131G>C | |
| NM_207359.3:c.903+1131G>C MANE Select | NP_997242.2:n.903+1131G>C |