HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67437073A>C , CM000678.2:g.67437073A>C | GRCh38 |
NC_000016.9:g.67470976A>C , CM000678.1:g.67470976A>C | GRCh37 |
NC_000016.8:g.66028477A>C | NCBI36 |
NG_011482.1:g.49114T>G | |
NG_016549.1:g.10941A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000326152.6:c.*70A>C MANE Select | ENSP00000316786.5:n.*70A>C | |
ENST00000326152.5:c.*70A>C | ENSP00000316786.5:n.*70A>C | |
NM_000196.3:c.*70A>C | NP_000187.3:n.*70A>C | |
NM_000196.4:c.*70A>C MANE Select | NP_000187.3:n.*70A>C |