HGVS | Genome Assembly |
---|---|
NC_000015.10:g.43067921G>T , CM000677.2:g.43067921G>T | GRCh38 |
NC_000015.9:g.43360119G>T , CM000677.1:g.43360119G>T | GRCh37 |
NC_000015.8:g.41147411G>T | NCBI36 |
NG_012182.1:g.43168C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290650.9:c.775C>A MANE Select | ENSP00000290650.4:p.His259Asn | |
ENST00000290650.8:c.775C>A | ENSP00000290650.4:p.His259Asn | |
ENST00000546274.6:c.775C>A | ENSP00000477932.1:p.His259Asn | |
ENST00000563239.1:c.*202+2978C>A | ENSP00000456502.1:n.*202+2978C>A | |
NM_174916.2:c.775C>A | NP_777576.1:p.His259Asn | |
NM_174916.3:c.775C>A MANE Select | NP_777576.1:p.His259Asn |