HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38675849G>C , CM000685.2:g.38675849G>C | GRCh38 |
NC_000023.10:g.38535103G>C , CM000685.1:g.38535103G>C | GRCh37 |
NC_000023.9:g.38420047G>C | NCBI36 |
NG_009160.1:g.119373G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378482.7:c.586G>C MANE Select | ENSP00000367743.2:p.Val196Leu | |
ENST00000286824.6:c.637G>C | ENSP00000286824.6:p.Val213Leu | |
ENST00000378482.6:c.586G>C | ENSP00000367743.2:p.Val196Leu | |
ENST00000419600.3:n.530G>C | ||
ENST00000465127.1:c.676G>C | ENSP00000417050.1:p.Val226Leu | |
ENST00000471410.5:c.*612G>C | ENSP00000419290.1:n.*612G>C | |
ENST00000475216.5:c.*579G>C | ENSP00000418586.1:n.*579G>C | |
NM_004615.3:c.586G>C | NP_004606.2:p.Val196Leu | |
NM_004615.4:c.586G>C MANE Select | NP_004606.2:p.Val196Leu |