gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59664436 (EAS)
Genomes Max Group AF
0.59664436 (EAS)
Exomes Max Group AF
0.2044221 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76470935G>C , CM000679.2:g.76470935G>C | GRCh38 |
| NC_000017.10:g.74467017G>C , CM000679.1:g.74467017G>C | GRCh37 |
| NC_000017.9:g.71978612G>C | NCBI36 |
| NG_015976.1:g.22585G>C | |
| NG_032852.1:g.35493C>G , LRG_532:g.35493C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675367.1:c.*698C>G MANE Select | ENSP00000501790.1:n.*698C>G | |
| ENST00000313080.8:c.*698C>G | ENSP00000322775.3:n.*698C>G | |
| ENST00000590168.5:n.2621C>G | ||
| NM_001005498.3:c.*698C>G | NP_001005498.2:n.*698C>G | |
| NM_024599.5:c.*698C>G , LRG_532t1:c.*698C>G | NP_078875.4:n.*698C>G | |
| XM_005257669.2:c.*698C>G | XP_005257726.1:n.*698C>G | |
| XM_005257670.1:c.*698C>G | XP_005257727.1:n.*698C>G | |
| XM_011525249.1:c.*698C>G | XP_011523551.1:n.*698C>G | |
| XM_011525250.1:c.*698C>G | XP_011523552.1:n.*698C>G | |
| XM_011525251.1:c.*698C>G | XP_011523553.1:n.*698C>G | |
| XM_005257669.3:c.*698C>G | XP_005257726.1:n.*698C>G | |
| XM_011525249.2:c.*698C>G | XP_011523551.1:n.*698C>G | |
| XM_011525250.2:c.*698C>G | XP_011523552.1:n.*698C>G | |
| XM_011525251.2:c.*698C>G | XP_011523553.1:n.*698C>G | |
| XM_017025079.1:c.*698C>G | XP_016880568.1:n.*698C>G | |
| XR_001752625.2:n.3626C>G | ||
| NM_001005498.4:c.*698C>G MANE Select | NP_001005498.2:n.*698C>G | |
| NM_001376228.1:c.*698C>G | NP_001363157.1:n.*698C>G | |
| NM_001376229.1:c.*698C>G | NP_001363158.1:n.*698C>G | |
| NM_001376230.1:c.*698C>G | NP_001363159.1:n.*698C>G | |
| NR_164785.1:n.3901C>G | ||
| NR_164786.1:n.3643C>G | ||
| NR_164787.1:n.3959C>G |