COSMIC:
COSM3753402 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16756679 (MID)
Genomes Max Group AF
0.14764628 (NFE)
Exomes Max Group AF
0.16901188 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57141483C>T , CM000674.2:g.57141483C>T | GRCh38 |
| NC_000012.11:g.57535266C>T , CM000674.1:g.57535266C>T | GRCh37 |
| NC_000012.10:g.55821533C>T | NCBI36 |
| NG_016444.1:g.17985C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243077.8:c.300C>T MANE Select | ENSP00000243077.3:p.Asp100= | |
| ENST00000243077.7:c.300C>T | ENSP00000243077.3:p.Asp100= | |
| ENST00000338962.8:c.300C>T | ENSP00000341264.4:p.Asp100= | |
| ENST00000553277.5:c.300C>T | ENSP00000451449.1:p.Asp100= | |
| ENST00000554174.1:c.300C>T | ENSP00000451737.1:p.Asp100= | |
| NM_002332.2:c.300C>T | NP_002323.2:p.Asp100= | |
| XM_017019303.1:c.300C>T | XP_016874792.1:p.Asp100= | |
| NM_002332.3:c.300C>T MANE Select | NP_002323.2:p.Asp100= |