HGVS | Genome Assembly |
---|---|
NC_000002.12:g.202464832T>A , CM000664.2:g.202464832T>A | GRCh38 |
NC_000002.11:g.203329555T>A , CM000664.1:g.203329555T>A | GRCh37 |
NC_000002.10:g.203037800T>A | NCBI36 |
NG_009363.1:g.93506T>A , LRG_712:g.93506T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374580.10:c.100T>A MANE Select | ENSP00000363708.4:p.Cys34Ser | |
ENST00000638587.1:c.25T>A | ENSP00000491062.1:p.Cys9Ser | |
ENST00000374574.2:c.100T>A | ENSP00000363702.2:p.Cys34Ser | |
ENST00000374580.8:c.100T>A | ENSP00000363708.4:p.Cys34Ser | |
ENST00000479069.1:n.7T>A | ||
NM_001204.6:c.100T>A , LRG_712t1:c.100T>A | NP_001195.2:p.Cys34Ser | |
XM_011511687.1:c.100T>A | XP_011509989.1:p.Cys34Ser | |
XM_011511688.1:c.100T>A | XP_011509990.1:p.Cys34Ser | |
NM_001204.7:c.100T>A MANE Select | NP_001195.2:p.Cys34Ser |