HGVS | Genome Assembly |
---|---|
NC_000002.12:g.202555857C= , CM000664.2:g.202555857C= | GRCh38 |
NC_000002.11:g.203420580C= , CM000664.1:g.203420580C= | GRCh37 |
NC_000002.10:g.203128825C= | NCBI36 |
NG_009363.1:g.184531C= , LRG_712:g.184531C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374580.10:c.2192C= MANE Select | ENSP00000363708.4:p.Ala731= | |
ENST00000638587.1:c.2123C= | ENSP00000491062.1:n.2123C= | |
ENST00000374574.2:c.1586+2969C= | ENSP00000363702.2:n.1586+2969C= | |
ENST00000374580.8:c.2192C= | ENSP00000363708.4:p.Ala731= | |
NM_001204.6:c.2192C= , LRG_712t1:c.2192C= | NP_001195.2:p.Ala731= | |
XM_011511687.1:c.2192C= | XP_011509989.1:p.Ala731= | |
XM_011511688.1:c.1586+2969C= | XP_011509990.1:n.1586+2969C= | |
NM_001204.7:c.2192C= MANE Select | NP_001195.2:p.Ala731= |