HGVS | Genome Assembly |
---|---|
NC_000012.12:g.14507042C>A , CM000674.2:g.14507042C>A | GRCh38 |
NC_000012.11:g.14659976C>A , CM000674.1:g.14659976C>A | GRCh37 |
NC_000012.10:g.14551243C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000240617.10:c.1263G>T MANE Select | ENSP00000240617.5:p.Lys421Asn | |
ENST00000240617.9:c.1263G>T | ENSP00000240617.5:p.Lys421Asn | |
NM_024829.5:c.1263G>T | NP_079105.4:p.Lys421Asn | |
NM_024829.6:c.1263G>T MANE Select | NP_079105.4:p.Lys421Asn |