COSMIC:
COSM4135107 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73119678 (AMR)
Genomes Max Group AF
0.67956426 (AMR)
Exomes Max Group AF
0.74608104 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46602317C>G , CM000683.2:g.46602317C>G | GRCh38 |
| NC_000021.8:g.48022230C>G , CM000683.1:g.48022230C>G | GRCh37 |
| NC_000021.7:g.46846658C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291700.9:c.99G>C MANE Select | ENSP00000291700.4:p.Leu33= | |
| ENST00000291700.8:c.99G>C | ENSP00000291700.4:p.Leu33= | |
| ENST00000367071.4:c.99G>C | ENSP00000356038.4:p.Leu33= | |
| ENST00000397648.1:c.99G>C | ENSP00000380769.1:p.Leu33= | |
| NM_006272.2:c.99G>C | NP_006263.1:p.Leu33= | |
| XM_017028424.2:c.99G>C | XP_016883913.1:p.Leu33= | |
| NM_006272.3:c.99G>C MANE Select | NP_006263.1:p.Leu33= |