gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45073587A>G , CM000669.2:g.45073587A>G | GRCh38 |
| NC_000007.13:g.45113186A>G , CM000669.1:g.45113186A>G | GRCh37 |
| NC_000007.12:g.45079711A>G | NCBI36 |
| NG_016295.1:g.78400A>G , LRG_664:g.78400A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258781.11:c.915+16A>G MANE Select | ENSP00000258781.7:n.915+16A>G | |
| ENST00000648329.1:c.*1703+16A>G | ENSP00000496916.1:n.*1703+16A>G | |
| ENST00000258781.10:c.915+16A>G | ENSP00000258781.6:n.915+16A>G | |
| ENST00000381112.7:c.978+16A>G | ENSP00000370503.3:n.978+16A>G | |
| ENST00000461377.5:n.1268+16A>G | ||
| ENST00000474617.1:c.624+16A>G | ENSP00000419474.1:n.624+16A>G | |
| ENST00000475551.5:c.897+16A>G | ENSP00000417180.1:n.897+16A>G | |
| ENST00000477605.1:n.1250+16A>G | ||
| ENST00000481194.1:n.3806A>G | ||
| ENST00000488727.5:c.*41+16A>G | ENSP00000417251.1:n.*41+16A>G | |
| ENST00000541586.5:c.741+16A>G | ENSP00000444725.1:n.741+16A>G | |
| ENST00000544363.5:c.642+16A>G | ENSP00000438035.1:n.642+16A>G | |
| NM_001029835.2:c.978+16A>G , LRG_664t1:c.978+16A>G | NP_001025006.1:n.978+16A>G | |
| NM_001167934.1:c.741+16A>G | NP_001161406.1:n.741+16A>G | |
| NM_001167935.1:c.642+16A>G | NP_001161407.1:n.642+16A>G | |
| NM_031443.3:c.915+16A>G , LRG_664t2:c.915+16A>G | NP_113631.1:n.915+16A>G | |
| NR_030770.1:n.997+16A>G | ||
| XM_006715785.2:c.804+16A>G | XP_006715848.1:n.804+16A>G | |
| XM_006715786.2:c.705+16A>G | XP_006715849.1:n.705+16A>G | |
| XM_011515561.1:c.1101+16A>G | XP_011513863.1:n.1101+16A>G | |
| XM_011515562.1:c.1038+16A>G | XP_011513864.1:n.1038+16A>G | |
| XM_011515563.1:c.927+16A>G | XP_011513865.1:n.927+16A>G | |
| XM_011515564.1:c.864+16A>G | XP_011513866.1:n.864+16A>G | |
| XR_428088.2:n.933+16A>G | ||
| NM_001363458.1:c.1038+16A>G | NP_001350387.1:n.1038+16A>G | |
| NM_001363459.1:c.864+16A>G | NP_001350388.1:n.864+16A>G | |
| XM_006715785.4:c.804+16A>G | XP_006715848.1:n.804+16A>G | |
| XM_006715786.3:c.705+16A>G | XP_006715849.1:n.705+16A>G | |
| XM_011515561.2:c.1101+16A>G | XP_011513863.1:n.1101+16A>G | |
| XM_011515563.3:c.927+16A>G | XP_011513865.1:n.927+16A>G | |
| XR_428088.3:n.953+16A>G | ||
| NM_001363458.2:c.1038+16A>G | NP_001350387.1:n.1038+16A>G | |
| NM_001363459.2:c.864+16A>G | NP_001350388.1:n.864+16A>G | |
| NM_031443.4:c.915+16A>G MANE Select | NP_113631.1:n.915+16A>G | |
| NR_030770.2:n.997+16A>G | ||
| NM_001167934.2:c.741+16A>G | NP_001161406.1:n.741+16A>G | |
| NM_001167935.2:c.642+16A>G | NP_001161407.1:n.642+16A>G |