HGVS | Genome Assembly |
---|---|
NC_000022.11:g.43946367A>C , CM000684.2:g.43946367A>C | GRCh38 |
NC_000022.10:g.44342247A>C , CM000684.1:g.44342247A>C | GRCh37 |
NC_000022.9:g.42673580A>C | NCBI36 |
NG_008631.1:g.27629A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216180.8:c.1431A>C MANE Select | ENSP00000216180.3:p.Leu477= | |
ENST00000216180.7:c.1431A>C | ENSP00000216180.3:p.Leu477= | |
ENST00000406117.6:c.*849+1572A>C | ENSP00000384668.2:n.*849+1572A>C | |
ENST00000423180.2:c.1419A>C | ENSP00000397987.2:p.Leu473= | |
NM_025225.2:c.1431A>C | NP_079501.2:p.Leu477= | |
NM_025225.3:c.1431A>C MANE Select | NP_079501.2:p.Leu477= |