HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67586511G>C , CM000673.2:g.67586511G>C | GRCh38 |
NC_000011.9:g.67353982G>C , CM000673.1:g.67353982G>C | GRCh37 |
NC_000011.8:g.67110558G>C | NCBI36 |
NG_012075.1:g.7917G>C , LRG_723:g.7917G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398603.6:c.459G>C | ENSP00000381604.1:p.Lys153Asn | |
ENST00000398606.10:c.567G>C MANE Select | ENSP00000381607.3:p.Lys189Asn | |
ENST00000398603.5:c.459G>C | ENSP00000381604.1:p.Lys153Asn | |
ENST00000398606.7:c.567G>C | ENSP00000381607.3:p.Lys189Asn | |
ENST00000467591.1:n.678G>C | ||
ENST00000494593.1:n.1539G>C | ||
ENST00000498765.5:c.630G>C | ||
NM_000852.3:c.567G>C , LRG_723t1:c.567G>C | NP_000843.1:p.Lys189Asn | |
NM_000852.4:c.567G>C MANE Select | NP_000843.1:p.Lys189Asn |