gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26461778 (MID)
Genomes Max Group AF
0.2959192 (EAS)
Exomes Max Group AF
0.26802987 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18251196T>C , CM000679.2:g.18251196T>C | GRCh38 |
| NC_000017.10:g.18154510T>C , CM000679.1:g.18154510T>C | GRCh37 |
| NC_000017.9:g.18095235T>C | NCBI36 |
| NG_023243.1:g.12546A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327031.9:c.1596+69A>G MANE Select | ENSP00000324573.4:n.1596+69A>G | |
| ENST00000327031.8:c.1596+69A>G | ENSP00000324573.4:n.1596+69A>G | |
| ENST00000496727.1:n.276A>G | ||
| ENST00000545457.6:c.1431+69A>G | ENSP00000438536.2:n.1431+69A>G | |
| ENST00000577485.1:c.217+2901A>G | ENSP00000463675.1:n.217+2901A>G | |
| ENST00000578101.5:c.*1547+69A>G | ENSP00000462293.1:n.*1547+69A>G | |
| ENST00000578558.5:c.1593+69A>G | ENSP00000462314.1:n.1593+69A>G | |
| ENST00000579294.5:c.1563+69A>G | ENSP00000463534.1:n.1563+69A>G | |
| NM_001256264.1:c.1563+69A>G | NP_001243193.1:n.1563+69A>G | |
| NM_001256265.1:c.1431+69A>G | NP_001243194.1:n.1431+69A>G | |
| NM_002018.3:c.1596+69A>G | NP_002009.1:n.1596+69A>G | |
| XM_005256555.2:c.1596+69A>G | XP_005256612.1:n.1596+69A>G | |
| XM_005256556.2:c.1593+69A>G | XP_005256613.1:n.1593+69A>G | |
| XM_005256558.1:c.1593+69A>G | XP_005256615.1:n.1593+69A>G | |
| XM_005256555.4:c.1596+69A>G | XP_005256612.1:n.1596+69A>G | |
| XM_005256556.4:c.1593+69A>G | XP_005256613.1:n.1593+69A>G | |
| XM_005256558.3:c.1593+69A>G | XP_005256615.1:n.1593+69A>G | |
| NM_002018.4:c.1596+69A>G MANE Select | NP_002009.1:n.1596+69A>G | |
| NM_001256264.2:c.1563+69A>G | NP_001243193.1:n.1563+69A>G | |
| NM_001256265.2:c.1431+69A>G | NP_001243194.1:n.1431+69A>G |