gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53590883 (AFR)
Genomes Max Group AF
0.53590883 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.140560427T>C , CM000666.2:g.140560427T>C | GRCh38 |
| NC_000004.11:g.141481581T>C , CM000666.1:g.141481581T>C | GRCh37 |
| NC_000004.10:g.141701031T>C | NCBI36 |
| NG_012139.1:g.13379A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262999.4:c.810-417A>G MANE Select | ENSP00000262999.3:n.810-417A>G | |
| ENST00000262999.3:c.810-417A>G | ENSP00000262999.3:n.810-417A>G | |
| NM_021833.4:c.810-417A>G | NP_068605.1:n.810-417A>G | |
| XM_005263206.2:c.807-417A>G | XP_005263263.1:n.807-417A>G | |
| XM_011532228.1:c.*293A>G | XP_011530530.1:n.*293A>G | |
| XM_005263206.3:c.807-417A>G | XP_005263263.1:n.807-417A>G | |
| XM_011532228.2:c.*293A>G | XP_011530530.1:n.*293A>G | |
| NM_021833.5:c.810-417A>G MANE Select | NP_068605.1:n.810-417A>G |