HGVS | Genome Assembly |
---|---|
NC_000004.12:g.141719385T>C , CM000666.2:g.141719385T>C | GRCh38 |
NC_000004.11:g.142640538T>C , CM000666.1:g.142640538T>C | GRCh37 |
NC_000004.10:g.142859988T>C | NCBI36 |
NG_029605.1:g.87790T>C | |
NG_029605.2:g.87790T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320650.9:c.-80T>C MANE Select | ENSP00000323505.4:n.-80T>C | |
ENST00000296545.11:c.-80T>C | ENSP00000296545.7:n.-80T>C | |
ENST00000320650.8:c.-80T>C | ENSP00000323505.4:n.-80T>C | |
ENST00000477265.5:c.-280T>C | ENSP00000436914.1:n.-280T>C | |
ENST00000505351.1:n.255T>C | ||
ENST00000514653.5:c.-280T>C | ENSP00000422271.1:n.-280T>C | |
ENST00000529613.5:c.-80T>C | ENSP00000435462.1:n.-80T>C | |
NM_000585.4:c.-80T>C | NP_000576.1:n.-80T>C | |
NM_172175.2:c.-280T>C | NP_751915.1:n.-280T>C | |
NR_037840.2:n.771T>C | ||
NM_000585.5:c.-80T>C MANE Select | NP_000576.1:n.-80T>C | |
NM_172175.3:c.-280T>C | NP_751915.1:n.-280T>C | |
NR_037840.3:n.784T>C |