HGVS | Genome Assembly |
---|---|
NC_000016.10:g.56609336G>T , CM000678.2:g.56609336G>T | GRCh38 |
NC_000016.9:g.56643248G>T , CM000678.1:g.56643248G>T | GRCh37 |
NC_000016.8:g.55200749G>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000245185.6:c.168G>T MANE Select | ENSP00000245185.5:p.Lys56Asn | |
ENST00000245185.5:c.168G>T | ENSP00000245185.5:p.Lys56Asn | |
ENST00000561491.1:c.*151G>T | ENSP00000456804.1:n.*151G>T | |
ENST00000562017.1:n.742G>T | ||
ENST00000563985.1:n.548G>T | ||
ENST00000567300.1:n.255G>T | ||
NM_005953.3:c.168G>T | NP_005944.1:p.Lys56Asn | |
NM_005953.4:c.168G>T | NP_005944.1:p.Lys56Asn | |
NM_005953.5:c.168G>T MANE Select | NP_005944.1:p.Lys56Asn |