gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00141702 (AFR)
Genomes Max Group AF
0.00145651 (AFR)
Exomes Max Group AF
0.00116369 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50187484T>G , CM000679.2:g.50187484T>G | GRCh38 |
| NC_000017.10:g.48264845T>G , CM000679.1:g.48264845T>G | GRCh37 |
| NC_000017.9:g.45619844T>G | NCBI36 |
| NG_007400.1:g.19156A>C , LRG_1:g.19156A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.3423A>C MANE Select | ENSP00000225964.6:p.Arg1141= | |
| ENST00000225964.9:c.3423A>C | ENSP00000225964.5:p.Arg1141= | |
| NM_000088.3:c.3423A>C , LRG_1t1:c.3423A>C | NP_000079.2:p.Arg1141= | |
| XM_005257058.3:c.3153A>C | XP_005257115.2:p.Arg1051= | |
| XM_005257059.3:c.2505A>C | XP_005257116.2:p.Arg835= | |
| XM_011524341.1:c.3225A>C | XP_011522643.1:p.Arg1075= | |
| XM_005257058.4:c.3153A>C | XP_005257115.2:p.Arg1051= | |
| XM_005257059.4:c.2505A>C | XP_005257116.2:p.Arg835= | |
| NM_000088.4:c.3423A>C MANE Select | NP_000079.2:p.Arg1141= |