HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47338561G>A , CM000673.2:g.47338561G>A | GRCh38 |
NC_000011.9:g.47360112G>A , CM000673.1:g.47360112G>A | GRCh37 |
NC_000011.8:g.47316688G>A | NCBI36 |
NG_007667.1:g.19142C>T , LRG_386:g.19142C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000545968.6:c.2267C>T MANE Select | ENSP00000442795.1:p.Pro756Leu | |
ENST00000256993.8:c.2267C>T | ENSP00000256993.5:p.Pro756Leu | |
ENST00000399249.6:c.2267C>T | ENSP00000382193.2:p.Pro756Leu | |
ENST00000544791.1:c.2267C>T | ENSP00000444259.1:p.Pro756Leu | |
ENST00000545968.5:c.2267C>T | ENSP00000442795.1:p.Pro756Leu | |
NM_000256.3:c.2267C>T , LRG_386t1:c.2267C>T MANE Select | NP_000247.2:p.Pro756Leu | |
XM_011520117.1:c.2249C>T | XP_011518419.1:p.Pro750Leu | |
XM_011520118.1:c.2186C>T | XP_011518420.1:p.Pro729Leu |