gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00158904 (EAS)
Genomes Max Group AF
0.00240095 (EAS)
Exomes Max Group AF
0.0013625 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42964371C>G , CM000668.2:g.42964371C>G | GRCh38 |
| NC_000006.11:g.42932109C>G , CM000668.1:g.42932109C>G | GRCh37 |
| NC_000006.10:g.43040087C>G | NCBI36 |
| NG_008370.1:g.19873G>C | |
| NG_008396.1:g.8610C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.2907G>C MANE Select | ENSP00000303511.8:p.Arg969= | |
| ENST00000244546.4:c.2660G>C | ENSP00000244546.4:n.2660G>C | |
| ENST00000304611.12:c.2907G>C | ENSP00000303511.8:p.Arg969= | |
| NM_000287.3:c.2907G>C | NP_000278.3:p.Arg969= | |
| NM_001316313.1:c.2643G>C | NP_001303242.1:p.Arg881= | |
| NR_133009.1:n.2753G>C | ||
| XM_011514661.1:c.2823G>C | XP_011512963.1:p.Arg941= | |
| XM_011514661.2:c.2823G>C | XP_011512963.1:p.Arg941= | |
| XR_001743466.2:n.3869G>C | ||
| NM_000287.4:c.2907G>C MANE Select | NP_000278.3:p.Arg969= | |
| NM_001316313.2:c.2643G>C | NP_001303242.1:p.Arg881= | |
| NR_133009.2:n.2691G>C |