HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49016114G>A , CM000681.2:g.49016114G>A | GRCh38 |
NC_000019.9:g.49519371G>A , CM000681.1:g.49519371G>A | GRCh37 |
NC_000019.8:g.54211183G>A | NCBI36 |
NG_011464.1:g.5977C>T | |
NG_033041.1:g.27216G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000649238.3:c.380C>T MANE Select | ENSP00000497294.2:p.Pro127Leu | |
ENST00000649284.1:n.471C>T | ||
ENST00000221421.6:c.380C>T | ENSP00000221421.1:p.Pro127Leu | |
ENST00000391869.4:c.374C>T | ENSP00000375742.4:p.Pro125Leu | |
NM_000894.2:c.380C>T | NP_000885.1:p.Pro127Leu | |
XM_011526975.1:c.428C>T | XP_011525277.1:p.Pro143Leu | |
NM_000894.3:c.380C>T MANE Select | NP_000885.1:p.Pro127Leu |