gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006224 (AFR)
Genomes Max Group AF
0.00001913 (AFR)
Exomes Max Group AF
0.00007713 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301211C>A , CM000666.2:g.6301211C>A | GRCh38 |
| NC_000004.11:g.6302938C>A , CM000666.1:g.6302938C>A | GRCh37 |
| NC_000004.10:g.6353839C>A | NCBI36 |
| NG_011700.1:g.36362C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1452C>A | ENSP00000507852.1:p.Pro484= | |
| ENST00000683395.1:c.1393C>A | ||
| ENST00000684087.1:c.1416C>A | ENSP00000506978.1:p.Pro472= | |
| ENST00000506362.2:c.1167C>A | ENSP00000424103.2:p.Pro389= | |
| ENST00000673642.1:c.1075C>A | ENSP00000501242.1:p.Leu359Ile | |
| ENST00000673991.1:c.1452C>A | ENSP00000501033.1:p.Pro484= | |
| ENST00000226760.5:c.1416C>A MANE Select | ENSP00000226760.1:p.Pro472= | |
| ENST00000503569.5:c.1416C>A | ENSP00000423337.1:p.Pro472= | |
| ENST00000507765.1:n.1601C>A | ||
| NM_001145853.1:c.1416C>A | NP_001139325.1:p.Pro472= | |
| NM_006005.3:c.1416C>A MANE Select | NP_005996.2:p.Pro472= | |
| XM_017008586.1:c.1425C>A | XP_016864075.1:p.Pro475= |