HGVS | Genome Assembly |
---|---|
NC_000015.10:g.45108862C>T , CM000677.2:g.45108862C>T | GRCh38 |
NC_000015.9:g.45401060C>T , CM000677.1:g.45401060C>T | GRCh37 |
NC_000015.8:g.43188352C>T | NCBI36 |
NG_009447.1:g.10300G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389039.11:c.1325G>A MANE Select | ENSP00000373691.7:p.Ser442Asn | |
ENST00000389039.10:c.1325G>A | ENSP00000373691.6:p.Ser442Asn | |
ENST00000558383.1:n.2490G>A | ||
ENST00000603300.1:c.1325G>A | ENSP00000475084.1:p.Ser442Asn | |
NM_014080.4:c.1325G>A | NP_054799.4:p.Ser442Asn | |
XM_005254421.2:c.1325G>A | XP_005254478.1:p.Ser442Asn | |
NM_001363711.1:c.1325G>A | NP_001350640.1:p.Ser442Asn | |
NM_001363711.2:c.1325G>A MANE Select | NP_001350640.1:p.Ser442Asn | |
NM_014080.5:c.1325G>A | NP_054799.4:p.Ser442Asn |