HGVS | Genome Assembly |
---|---|
NC_000002.12:g.202556287G>T , CM000664.2:g.202556287G>T | GRCh38 |
NC_000002.11:g.203421010G>T , CM000664.1:g.203421010G>T | GRCh37 |
NC_000002.10:g.203129255G>T | NCBI36 |
NG_009363.1:g.184961G>T , LRG_712:g.184961G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374580.10:c.2622G>T MANE Select | ENSP00000363708.4:p.Glu874Asp | |
ENST00000638587.1:c.2553G>T | ENSP00000491062.1:n.2553G>T | |
ENST00000374574.2:c.1586+3399G>T | ENSP00000363702.2:n.1586+3399G>T | |
ENST00000374580.8:c.2622G>T | ENSP00000363708.4:p.Glu874Asp | |
NM_001204.6:c.2622G>T , LRG_712t1:c.2622G>T | NP_001195.2:p.Glu874Asp | |
XM_011511687.1:c.2622G>T | XP_011509989.1:p.Glu874Asp | |
XM_011511688.1:c.1586+3399G>T | XP_011509990.1:n.1586+3399G>T | |
NM_001204.7:c.2622G>T MANE Select | NP_001195.2:p.Glu874Asp |