COSMIC:
COSM4417932 (not active)
COSM4417933 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24624595 (AFR)
Genomes Max Group AF
0.23949216 (AFR)
Exomes Max Group AF
0.25186114 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71756849A>G , CM000666.2:g.71756849A>G | GRCh38 |
| NC_000004.11:g.72622566A>G , CM000666.1:g.72622566A>G | GRCh37 |
| NC_000004.10:g.72841430A>G | NCBI36 |
| NG_012837.2:g.53672T>C | |
| NG_012837.3:g.53672T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273951.13:c.897T>C MANE Select | ENSP00000273951.8:p.Cys299= | |
| ENST00000273951.12:c.897T>C | ENSP00000273951.8:p.Cys299= | |
| ENST00000503472.5:n.781T>C | ||
| ENST00000504199.5:c.954T>C | ENSP00000421725.1:p.Cys318= | |
| ENST00000509740.5:c.897T>C | ENSP00000422664.1:p.Cys299= | |
| ENST00000513476.5:c.897T>C | ENSP00000426683.1:p.Cys299= | |
| NM_000583.3:c.897T>C | NP_000574.2:p.Cys299= | |
| NM_001204306.1:c.897T>C | NP_001191235.1:p.Cys299= | |
| NM_001204307.1:c.954T>C | NP_001191236.1:p.Cys318= | |
| XM_006714177.2:c.897T>C | XP_006714240.1:p.Cys299= | |
| XM_006714177.3:c.897T>C | XP_006714240.1:p.Cys299= | |
| NM_000583.4:c.897T>C MANE Select | NP_000574.2:p.Cys299= |