HGVS | Genome Assembly |
---|---|
NC_000002.12:g.202377893G>A , CM000664.2:g.202377893G>A | GRCh38 |
NC_000002.11:g.203242616G>A , CM000664.1:g.203242616G>A | GRCh37 |
NC_000002.10:g.202950861G>A | NCBI36 |
NG_009363.1:g.6567G>A , LRG_712:g.6567G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374580.10:c.76+343G>A MANE Select | ENSP00000363708.4:n.76+343G>A | |
ENST00000374574.2:c.76+343G>A | ENSP00000363702.2:n.76+343G>A | |
ENST00000374580.8:c.76+343G>A | ENSP00000363708.4:n.76+343G>A | |
NM_001204.6:c.76+343G>A , LRG_712t1:c.76+343G>A | NP_001195.2:n.76+343G>A | |
XM_011511687.1:c.76+343G>A | XP_011509989.1:n.76+343G>A | |
XM_011511688.1:c.76+343G>A | XP_011509990.1:n.76+343G>A | |
NM_001204.7:c.76+343G>A MANE Select | NP_001195.2:n.76+343G>A |