gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1406017 (AMR)
Genomes Max Group AF
0.1406017 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.70665152T>C , CM000674.2:g.70665152T>C | GRCh38 |
| NC_000012.11:g.71058932T>C , CM000674.1:g.71058932T>C | GRCh37 |
| NC_000012.10:g.69345199T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283228.7:c.1498-2547A>G MANE Select | ENSP00000283228.2:n.1498-2547A>G | |
| ENST00000283228.6:c.1498-2547A>G | ENSP00000283228.2:n.1498-2547A>G | |
| ENST00000342084.8:c.1162-2547A>G | ENSP00000339605.4:n.1162-2547A>G | |
| ENST00000378778.5:c.880-2547A>G | ENSP00000368054.1:n.880-2547A>G | |
| ENST00000440835.6:c.763-2547A>G | ENSP00000391750.2:n.763-2547A>G | |
| ENST00000548220.1:n.1046-2547A>G | ||
| ENST00000549107.5:n.332-2547A>G | ||
| ENST00000549308.5:c.763-2547A>G | ENSP00000446943.1:n.763-2547A>G | |
| ENST00000551219.5:c.*126-2547A>G | ENSP00000448049.1:n.*126-2547A>G | |
| NM_001207015.1:c.1162-2547A>G | NP_001193944.1:n.1162-2547A>G | |
| NM_001207016.1:c.880-2547A>G | NP_001193945.1:n.880-2547A>G | |
| NM_002849.3:c.1498-2547A>G | NP_002840.2:n.1498-2547A>G | |
| NM_130846.2:c.763-2547A>G | NP_570897.2:n.763-2547A>G | |
| NR_073474.1:n.1248-2547A>G | ||
| XM_011538615.1:c.1474-2547A>G | XP_011536917.1:n.1474-2547A>G | |
| XM_011538615.2:c.1474-2547A>G | XP_011536917.1:n.1474-2547A>G | |
| XR_001748830.1:n.1840-2547A>G | ||
| XR_001748831.2:n.1281-2547A>G | ||
| NM_002849.4:c.1498-2547A>G MANE Select | NP_002840.2:n.1498-2547A>G | |
| NM_001207015.2:c.1162-2547A>G | NP_001193944.1:n.1162-2547A>G | |
| NM_130846.3:c.763-2547A>G | NP_570897.2:n.763-2547A>G | |
| NR_073474.2:n.1248-2547A>G |