HGVS | Genome Assembly |
---|---|
NC_000016.10:g.56609334A>C , CM000678.2:g.56609334A>C | GRCh38 |
NC_000016.9:g.56643246A>C , CM000678.1:g.56643246A>C | GRCh37 |
NC_000016.8:g.55200747A>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000245185.6:c.166A>C MANE Select | ENSP00000245185.5:p.Lys56Gln | |
ENST00000245185.5:c.166A>C | ENSP00000245185.5:p.Lys56Gln | |
ENST00000561491.1:c.*149A>C | ENSP00000456804.1:n.*149A>C | |
ENST00000562017.1:n.740A>C | ||
ENST00000563985.1:n.546A>C | ||
ENST00000567300.1:n.253A>C | ||
NM_005953.3:c.166A>C | NP_005944.1:p.Lys56Gln | |
NM_005953.4:c.166A>C | NP_005944.1:p.Lys56Gln | |
NM_005953.5:c.166A>C MANE Select | NP_005944.1:p.Lys56Gln |