HGVS | Genome Assembly |
---|---|
NC_000023.11:g.121048438C>A , CM000685.2:g.121048438C>A | GRCh38 |
NC_000023.10:g.120182292C>A , CM000685.1:g.120182292C>A | GRCh37 |
NC_000023.9:g.120009973C>A | NCBI36 |
NG_016456.1:g.5831C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000328078.3:c.754C>A MANE Select | ENSP00000327589.1:p.His252Asn | |
ENST00000328078.2:c.754C>A | ENSP00000327589.1:p.His252Asn | |
NM_012084.3:c.754C>A | NP_036216.2:p.His252Asn | |
NM_012084.4:c.754C>A MANE Select | NP_036216.2:p.His252Asn |