HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147132317G>C , CM000669.2:g.147132317G>C | GRCh38 |
NC_000007.13:g.146829409G>C , CM000669.1:g.146829409G>C | GRCh37 |
NC_000007.12:g.146460342G>C | NCBI36 |
NG_007092.2:g.1020957G>C | |
NG_007092.3:g.1021317G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361727.8:c.1156G>C MANE Select | ENSP00000354778.3:p.Val386Leu | |
ENST00000636561.1:n.1059G>C | ||
ENST00000636870.1:n.1018G>C | ||
ENST00000637150.1:n.1085G>C | ||
ENST00000637694.1:n.1059G>C | ||
ENST00000637825.1:n.639G>C | ||
ENST00000638117.1:n.1059G>C | ||
ENST00000361727.7:c.1156G>C | ENSP00000354778.3:p.Val386Leu | |
NM_014141.5:c.1156G>C | NP_054860.1:p.Val386Leu | |
XM_017011950.2:c.1156G>C | XP_016867439.1:p.Val386Leu | |
NM_014141.6:c.1156G>C MANE Select | NP_054860.1:p.Val386Leu |