gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18310943T>A , CM000673.2:g.18310943T>A | GRCh38 |
| NC_000011.9:g.18332490T>A , CM000673.1:g.18332490T>A | GRCh37 |
| NC_000011.8:g.18289066T>A | NCBI36 |
| NG_008877.1:g.16232A>T , LRG_586:g.16232A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349215.8:c.285-10A>T MANE Select | ENSP00000265967.5:n.285-10A>T | |
| ENST00000349215.7:c.285-10A>T | ENSP00000265967.5:n.285-10A>T | |
| ENST00000396253.7:c.-58-10A>T | ENSP00000379552.3:n.-58-10A>T | |
| ENST00000438420.6:c.-58-10A>T | ENSP00000399590.2:n.-58-10A>T | |
| ENST00000531848.1:c.-58-10A>T | ENSP00000431758.1:n.-58-10A>T | |
| NM_007216.3:c.-58-10A>T | NP_009147.3:n.-58-10A>T | |
| NM_181507.1:c.285-10A>T , LRG_586t1:c.285-10A>T | NP_852608.1:n.285-10A>T | |
| NM_181508.1:c.-58-10A>T | NP_852609.1:n.-58-10A>T | |
| XM_011519862.1:c.285-10A>T | XP_011518164.1:n.285-10A>T | |
| XM_011519863.1:c.285-10A>T | XP_011518165.1:n.285-10A>T | |
| XM_011519864.1:c.285-10A>T | XP_011518166.1:n.285-10A>T | |
| XM_011519865.1:c.174-10A>T | XP_011518167.1:n.174-10A>T | |
| XM_011519866.1:c.-58-10A>T | XP_011518168.1:n.-58-10A>T | |
| XM_011519867.1:c.-58-10A>T | XP_011518169.1:n.-58-10A>T | |
| XM_011519868.1:c.-58-10A>T | XP_011518170.1:n.-58-10A>T | |
| XM_011519869.1:c.285-10A>T | XP_011518171.1:n.285-10A>T | |
| XM_011519870.1:c.285-10A>T | XP_011518172.1:n.285-10A>T | |
| XM_011519871.1:c.285-10A>T | XP_011518173.1:n.285-10A>T | |
| XM_011519868.3:c.-58-10A>T | XP_011518170.1:n.-58-10A>T | |
| XM_017017149.1:c.285-10A>T | XP_016872638.1:n.285-10A>T | |
| XM_017017150.1:c.285-10A>T | XP_016872639.1:n.285-10A>T | |
| XM_017017151.2:c.174-10A>T | XP_016872640.1:n.174-10A>T | |
| XM_017017152.1:c.174-10A>T | XP_016872641.1:n.174-10A>T | |
| XM_017017153.2:c.174-10A>T | XP_016872642.1:n.174-10A>T | |
| XM_017017154.1:c.-58-10A>T | XP_016872643.1:n.-58-10A>T | |
| XR_001747750.1:n.554-10A>T | ||
| XR_001747751.1:n.554-10A>T | ||
| XR_001747752.1:n.310-10A>T | ||
| XR_001747753.1:n.427-10A>T | ||
| XR_001747754.2:n.529-10A>T | ||
| XR_001747755.2:n.529-10A>T | ||
| XR_001747756.2:n.542-10A>T | ||
| NM_007216.4:c.-58-10A>T | NP_009147.3:n.-58-10A>T | |
| NM_181507.2:c.285-10A>T MANE Select | NP_852608.1:n.285-10A>T |