COSMIC:
COSM3751597 (not active)
COSM3751598 (not active)
COSM3751599 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44961255 (AMR)
Genomes Max Group AF
0.3885776 (AMR)
Exomes Max Group AF
0.46845117 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.126064909G>A , CM000672.2:g.126064909G>A | GRCh38 |
| NC_000010.10:g.127753478G>A , CM000672.1:g.127753478G>A | GRCh37 |
| NC_000010.9:g.127743468G>A | NCBI36 |
| NG_029050.1:g.328650C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448723.2:c.1506C>T MANE Select | ENSP00000391268.2:p.Asn502= | |
| ENST00000368676.8:c.1515C>T | ENSP00000357665.4:p.Asn505= | |
| ENST00000368679.8:c.1515C>T | ENSP00000357668.4:p.Asn505= | |
| ENST00000467145.1:n.430C>T | ||
| ENST00000482291.1:n.383C>T | ||
| NM_001288973.1:c.1506C>T | NP_001275902.1:p.Asn502= | |
| NM_001288974.1:c.1506C>T | NP_001275903.1:p.Asn502= | |
| NM_001288975.1:c.1506C>T | NP_001275904.1:p.Asn502= | |
| NM_003474.5:c.1515C>T | NP_003465.3:p.Asn505= | |
| NM_021641.4:c.1515C>T | NP_067673.2:p.Asn505= | |
| XM_017016705.1:c.1047C>T | XP_016872194.1:p.Asn349= | |
| XM_017016706.1:c.348C>T | XP_016872195.1:p.Asn116= | |
| XM_024448210.1:c.177C>T | XP_024303978.1:p.Asn59= | |
| NM_001288973.2:c.1506C>T MANE Select | NP_001275902.1:p.Asn502= | |
| NM_001288974.2:c.1506C>T | NP_001275903.1:p.Asn502= | |
| NM_001288975.2:c.1506C>T | NP_001275904.1:p.Asn502= | |
| NM_003474.6:c.1515C>T | NP_003465.3:p.Asn505= | |
| NM_021641.5:c.1515C>T | NP_067673.2:p.Asn505= |