gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00006613 (AMR)
Exomes Max Group AF
0.00008861 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583461G>C , CM000673.2:g.2583461G>C | GRCh38 |
| NC_000011.9:g.2604691G>C , CM000673.1:g.2604691G>C | GRCh37 |
| NC_000011.8:g.2561267G>C | NCBI36 |
| NG_008935.1:g.143471G>C , LRG_287:g.143471G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.687G>C | ENSP00000434560.2:p.Gly229= | |
| ENST00000646564.2:c.504G>C | ENSP00000495806.2:p.Gly168= | |
| ENST00000155840.12:c.948G>C MANE Select | ENSP00000155840.2:p.Gly316= | |
| ENST00000335475.6:c.567G>C | ENSP00000334497.5:p.Gly189= | |
| ENST00000646564.1:c.150G>C | ENSP00000495806.1:p.Gly50= | |
| ENST00000155840.9:c.948G>C | ENSP00000155840.2:p.Gly316= | |
| ENST00000335475.5:c.567G>C | ENSP00000334497.5:p.Gly189= | |
| NM_000218.2:c.948G>C , LRG_287t1:c.948G>C | NP_000209.2:p.Gly316= | |
| NM_181798.1:c.567G>C , LRG_287t2:c.567G>C | NP_861463.1:p.Gly189= | |
| NM_000218.3:c.948G>C MANE Select | NP_000209.2:p.Gly316= |