ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624230G>A , CM000679.2:g.41624230G>A | GRCh38 |
| NC_000017.10:g.39780482G>A , CM000679.1:g.39780482G>A | GRCh37 |
| NC_000017.9:g.37034008G>A | NCBI36 |
| NG_008625.1:g.5401C>T | |
| NG_009090.2:g.167483C>T , LRG_401:g.167483C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.280C>T MANE Select | ENSP00000308452.8:p.Arg94Cys | |
| ENST00000311208.12:c.280C>T | ENSP00000308452.8:p.Arg94Cys | |
| ENST00000463128.5:c.-312-24C>T | ENSP00000468672.1:n.-312-24C>T | |
| ENST00000491673.1:n.346C>T | ||
| ENST00000493253.5:n.67C>T | ||
| ENST00000540235.5:c.71+4C>T | ENSP00000441751.2:n.71+4C>T | |
| ENST00000577817.3:c.235C>T | ENSP00000467418.1:p.Arg79Cys | |
| NM_000422.2:c.280C>T | NP_000413.1:p.Arg94Cys | |
| NM_000422.3:c.280C>T MANE Select | NP_000413.1:p.Arg94Cys |