gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.77608768 (NFE)
Genomes Max Group AF
0.77608768 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12714384A>G , CM000679.2:g.12714384A>G | GRCh38 |
| NC_000017.10:g.12617701A>G , CM000679.1:g.12617701A>G | GRCh37 |
| NC_000017.9:g.12558426A>G | NCBI36 |
| NG_012972.1:g.53495A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425538.6:c.122-1135A>G MANE Select | ENSP00000401678.1:n.122-1135A>G | |
| ENST00000343344.8:c.122-1135A>G | ENSP00000341835.4:n.122-1135A>G | |
| ENST00000425538.5:c.122-1135A>G | ENSP00000401678.1:n.122-1135A>G | |
| ENST00000579237.5:c.*40-1135A>G | ENSP00000462694.1:n.*40-1135A>G | |
| NM_001146312.2:c.122-1135A>G | NP_001139784.1:n.122-1135A>G | |
| NM_153604.3:c.122-1135A>G | NP_705832.1:n.122-1135A>G | |
| XM_005256863.1:c.122-1135A>G | XP_005256920.1:n.122-1135A>G | |
| XM_005256864.1:c.-116-1135A>G | XP_005256921.1:n.-116-1135A>G | |
| XM_017025342.1:c.122-1135A>G | XP_016880831.1:n.122-1135A>G | |
| NM_001146312.3:c.122-1135A>G MANE Select | NP_001139784.1:n.122-1135A>G | |
| NM_001378306.1:c.-116-1135A>G | NP_001365235.1:n.-116-1135A>G | |
| NM_153604.4:c.122-1135A>G | NP_705832.1:n.122-1135A>G |