gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00037241 (AMR)
Genomes Max Group AF
0.00012883 (AMR)
Exomes Max Group AF
0.00063021 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80460707A>G , CM000674.2:g.80460707A>G | GRCh38 |
| NC_000012.11:g.80849470T>C , CM000674.1:g.80849470T>C | GRCh37 |
| NC_000012.10:g.79373601T>C | NCBI36 |
| NG_034052.1:g.21362A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644991.3:c.715A>G MANE Select | ENSP00000495607.1:p.Arg239Gly | |
| ENST00000614701.4:c.715A>G | ENSP00000482885.1:p.Arg239Gly | |
| ENST00000616559.4:c.841A>G | ENSP00000483259.1:p.Arg281Gly | |
| NM_001145026.1:c.715A>G | NP_001138498.1:p.Arg239Gly | |
| XM_011538290.1:c.715A>G | XP_011536592.1:p.Arg239Gly | |
| XM_017019273.1:c.1381A>G | XP_016874762.1:p.Arg461Gly | |
| XM_017019274.1:c.1381A>G | XP_016874763.1:p.Arg461Gly | |
| XM_017019275.1:c.1381A>G | XP_016874764.1:p.Arg461Gly | |
| XR_001748688.1:n.1518A>G | ||
| XR_001748689.1:n.1518A>G | ||
| NM_001145026.2:c.715A>G MANE Select | NP_001138498.1:p.Arg239Gly |