HGVS | Genome Assembly |
---|---|
NC_000002.12:g.202555752C>A , CM000664.2:g.202555752C>A | GRCh38 |
NC_000002.11:g.203420475C>A , CM000664.1:g.203420475C>A | GRCh37 |
NC_000002.10:g.203128720C>A | NCBI36 |
NG_009363.1:g.184426C>A , LRG_712:g.184426C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374580.10:c.2087C>A MANE Select | ENSP00000363708.4:p.Pro696Gln | |
ENST00000638587.1:c.2018C>A | ENSP00000491062.1:n.2018C>A | |
ENST00000374574.2:c.1586+2864C>A | ENSP00000363702.2:n.1586+2864C>A | |
ENST00000374580.8:c.2087C>A | ENSP00000363708.4:p.Pro696Gln | |
NM_001204.6:c.2087C>A , LRG_712t1:c.2087C>A | NP_001195.2:p.Pro696Gln | |
XM_011511687.1:c.2087C>A | XP_011509989.1:p.Pro696Gln | |
XM_011511688.1:c.1586+2864C>A | XP_011509990.1:n.1586+2864C>A | |
NM_001204.7:c.2087C>A MANE Select | NP_001195.2:p.Pro696Gln |