gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947654G>A , CM000678.2:g.13947654G>A | GRCh38 |
| NC_000016.9:g.14041511G>A , CM000678.1:g.14041511G>A | GRCh37 |
| NC_000016.8:g.13949012G>A | NCBI36 |
| NG_011442.1:g.32498G>A , LRG_463:g.32498G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2196G>A | ENSP00000507912.1:p.Val732= | |
| ENST00000683962.1:c.*1752G>A | ENSP00000506854.1:n.*1752G>A | |
| ENST00000311895.8:c.2058G>A MANE Select | ENSP00000310520.7:p.Val686= | |
| ENST00000311895.7:c.2058G>A | ENSP00000310520.7:p.Val686= | |
| ENST00000389138.7:n.1335G>A | ||
| ENST00000462862.1:c.371G>A | ENSP00000461322.1:n.371G>A | |
| NM_005236.2:c.2058G>A , LRG_463t1:c.2058G>A | NP_005227.1:p.Val686= | |
| XM_011522424.1:c.2196G>A | XP_011520726.1:p.Val732= | |
| XM_011522425.1:c.1515G>A | XP_011520727.1:p.Val505= | |
| XM_011522426.1:c.1269G>A | XP_011520728.1:p.Val423= | |
| XM_011522427.1:c.708G>A | XP_011520729.1:p.Val236= | |
| XR_932805.1:n.2217G>A | ||
| XM_011522424.3:c.2196G>A | XP_011520726.1:p.Val732= | |
| XM_017023043.2:c.1269G>A | XP_016878532.1:p.Val423= | |
| NM_005236.3:c.2058G>A MANE Select | NP_005227.1:p.Val686= |