HGVS | Genome Assembly |
---|---|
NC_000002.12:g.202467582C>A , CM000664.2:g.202467582C>A | GRCh38 |
NC_000002.11:g.203332305C>A , CM000664.1:g.203332305C>A | GRCh37 |
NC_000002.10:g.203040550C>A | NCBI36 |
NG_009363.1:g.96256C>A , LRG_712:g.96256C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000374580.10:c.311C>A MANE Select | ENSP00000363708.4:p.Thr104Asn | |
ENST00000638587.1:c.242C>A | ENSP00000491062.1:p.Thr81Asn | |
ENST00000374574.2:c.311C>A | ENSP00000363702.2:p.Thr104Asn | |
ENST00000374580.8:c.311C>A | ENSP00000363708.4:p.Thr104Asn | |
ENST00000479069.1:n.218C>A | ||
NM_001204.6:c.311C>A , LRG_712t1:c.311C>A | NP_001195.2:p.Thr104Asn | |
XM_011511687.1:c.311C>A | XP_011509989.1:p.Thr104Asn | |
XM_011511688.1:c.311C>A | XP_011509990.1:p.Thr104Asn | |
NM_001204.7:c.311C>A MANE Select | NP_001195.2:p.Thr104Asn |