HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4817036G>T , CM000681.2:g.4817036G>T | GRCh38 |
NC_000019.9:g.4817048G>T , CM000681.1:g.4817048G>T | GRCh37 |
NC_000019.8:g.4768048G>T | NCBI36 |
NG_031998.1:g.19707C>A , LRG_358:g.19707C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.1342C>A MANE Select | ENSP00000248244.4:p.His448Asn | |
ENST00000248244.5:c.1342C>A | ENSP00000248244.4:p.His448Asn | |
ENST00000621756.1:c.925C>A | ENSP00000479467.1:p.His309Asn | |
NM_182919.3:c.1342C>A , LRG_358t1:c.1342C>A | NP_891549.1:p.His448Asn | |
NM_001385678.1:c.1300C>A | NP_001372607.1:p.His434Asn | |
NM_001385679.1:c.1207C>A | NP_001372608.1:p.His403Asn | |
NM_001385680.1:c.700C>A | NP_001372609.1:p.His234Asn | |
NM_182919.4:c.1342C>A MANE Select | NP_891549.1:p.His448Asn |