dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76783928 (AMR)
Genomes Max Group AF
0.76783928 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30620836C>G , CM000665.2:g.30620836C>G | GRCh38 |
| NC_000003.11:g.30662328C>G , CM000665.1:g.30662328C>G | GRCh37 |
| NC_000003.10:g.30637332C>G | NCBI36 |
| NG_007490.1:g.19335C>G , LRG_779:g.19335C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.94+13859C>G MANE Select | ENSP00000295754.5:n.94+13859C>G | |
| ENST00000673250.1:n.144-2363C>G | ||
| ENST00000295754.9:c.94+13859C>G | ENSP00000295754.5:n.94+13859C>G | |
| ENST00000359013.4:c.95-2363C>G | ENSP00000351905.4:n.95-2363C>G | |
| NM_001024847.2:c.95-2363C>G , LRG_779t1:c.95-2363C>G | NP_001020018.1:n.95-2363C>G | |
| NM_003242.5:c.94+13859C>G | NP_003233.4:n.94+13859C>G | |
| XM_011534043.1:c.47-2363C>G | XP_011532345.1:n.47-2363C>G | |
| XM_011534044.1:c.46+6130C>G | XP_011532346.1:n.46+6130C>G | |
| XM_011534045.1:c.-12+14243C>G | XP_011532347.1:n.-12+14243C>G | |
| XM_011534043.2:c.47-2363C>G | XP_011532345.1:n.47-2363C>G | |
| XM_011534045.3:c.-12+14243C>G | XP_011532347.1:n.-12+14243C>G | |
| NM_003242.6:c.94+13859C>G MANE Select | NP_003233.4:n.94+13859C>G |