gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.89308671 (SAS)
Genomes Max Group AF
0.89308671 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.70686988T>C , CM000674.2:g.70686988T>C | GRCh38 |
| NC_000012.11:g.71080768T>C , CM000674.1:g.71080768T>C | GRCh37 |
| NC_000012.10:g.69367035T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283228.7:c.1280-2205A>G MANE Select | ENSP00000283228.2:n.1280-2205A>G | |
| ENST00000283228.6:c.1280-2205A>G | ENSP00000283228.2:n.1280-2205A>G | |
| ENST00000342084.8:c.944-2205A>G | ENSP00000339605.4:n.944-2205A>G | |
| ENST00000378778.5:c.662-2205A>G | ENSP00000368054.1:n.662-2205A>G | |
| ENST00000440835.6:c.545-2205A>G | ENSP00000391750.2:n.545-2205A>G | |
| ENST00000548220.1:n.828-2205A>G | ||
| ENST00000549308.5:c.545-2205A>G | ENSP00000446943.1:n.545-2205A>G | |
| ENST00000550661.1:c.545-2205A>G | ENSP00000449616.1:n.545-2205A>G | |
| ENST00000551219.5:c.77-2205A>G | ENSP00000448049.1:n.77-2205A>G | |
| NM_001207015.1:c.944-2205A>G | NP_001193944.1:n.944-2205A>G | |
| NM_001207016.1:c.662-2205A>G | NP_001193945.1:n.662-2205A>G | |
| NM_002849.3:c.1280-2205A>G | NP_002840.2:n.1280-2205A>G | |
| NM_130846.2:c.545-2205A>G | NP_570897.2:n.545-2205A>G | |
| NR_073474.1:n.773-2205A>G | ||
| XM_011538615.1:c.1256-2205A>G | XP_011536917.1:n.1256-2205A>G | |
| XM_011538616.1:c.1280-2205A>G | XP_011536918.1:n.1280-2205A>G | |
| XR_944652.1:n.1481-2205A>G | ||
| XM_011538615.2:c.1256-2205A>G | XP_011536917.1:n.1256-2205A>G | |
| XR_001748830.1:n.1622-2205A>G | ||
| XR_001748831.2:n.1063-2205A>G | ||
| NM_002849.4:c.1280-2205A>G MANE Select | NP_002840.2:n.1280-2205A>G | |
| NM_001207015.2:c.944-2205A>G | NP_001193944.1:n.944-2205A>G | |
| NM_130846.3:c.545-2205A>G | NP_570897.2:n.545-2205A>G | |
| NR_073474.2:n.773-2205A>G |