gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12072484 (MID)
Genomes Max Group AF
0.10444891 (SAS)
Exomes Max Group AF
0.12180311 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50625049T>C , CM000684.2:g.50625049T>C | GRCh38 |
| NC_000022.10:g.51063477T>C , CM000684.1:g.51063477T>C | GRCh37 |
| NC_000022.9:g.49410343T>C | NCBI36 |
| NG_009260.2:g.8131A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216124.10:c.*96A>G MANE Select | ENSP00000216124.5:n.*96A>G | |
| ENST00000216124.9:c.*96A>G | ENSP00000216124.5:n.*96A>G | |
| ENST00000356098.9:c.*96A>G | ENSP00000348406.5:n.*96A>G | |
| ENST00000395619.3:c.*96A>G | ENSP00000378981.3:n.*96A>G | |
| ENST00000395621.7:c.*96A>G | ENSP00000378983.3:n.*96A>G | |
| ENST00000453344.6:c.*96A>G | ENSP00000412542.2:n.*96A>G | |
| ENST00000608497.1:c.180+314A>G | ||
| NM_000487.5:c.*96A>G | NP_000478.3:n.*96A>G | |
| NM_001085425.2:c.*96A>G | NP_001078894.2:n.*96A>G | |
| NM_001085426.2:c.*96A>G | NP_001078895.2:n.*96A>G | |
| NM_001085427.2:c.*96A>G | NP_001078896.2:n.*96A>G | |
| NM_001085428.2:c.*96A>G | NP_001078897.1:n.*96A>G | |
| XM_011530690.1:c.*96A>G | XP_011528992.1:n.*96A>G | |
| XM_011530691.1:c.*359A>G | XP_011528993.1:n.*359A>G | |
| NM_001362782.1:c.*96A>G | NP_001349711.1:n.*96A>G | |
| XM_011530691.3:c.*359A>G | XP_011528993.1:n.*359A>G | |
| XM_017028800.1:c.*96A>G | XP_016884289.1:n.*96A>G | |
| XM_024452241.1:c.*359A>G | XP_024308009.1:n.*359A>G | |
| NM_000487.6:c.*96A>G MANE Select | NP_000478.3:n.*96A>G | |
| NM_001085425.3:c.*96A>G | NP_001078894.2:n.*96A>G | |
| NM_001085426.3:c.*96A>G | NP_001078895.2:n.*96A>G | |
| NM_001085427.3:c.*96A>G | NP_001078896.2:n.*96A>G | |
| NM_001085428.3:c.*96A>G | NP_001078897.1:n.*96A>G | |
| NM_001362782.2:c.*96A>G | NP_001349711.1:n.*96A>G |