HGVS | Genome Assembly |
---|---|
NC_000022.11:g.43946383G>C , CM000684.2:g.43946383G>C | GRCh38 |
NC_000022.10:g.44342263G>C , CM000684.1:g.44342263G>C | GRCh37 |
NC_000022.9:g.42673596G>C | NCBI36 |
NG_008631.1:g.27645G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216180.8:c.*1G>C MANE Select | ENSP00000216180.3:n.*1G>C | |
ENST00000216180.7:c.*1G>C | ENSP00000216180.3:n.*1G>C | |
ENST00000406117.6:c.*849+1588G>C | ENSP00000384668.2:n.*849+1588G>C | |
ENST00000423180.2:c.*1G>C | ENSP00000397987.2:n.*1G>C | |
NM_025225.2:c.*1G>C | NP_079501.2:n.*1G>C | |
NM_025225.3:c.*1G>C MANE Select | NP_079501.2:n.*1G>C |