HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226650T>G , CM000673.2:g.5226650T>G | GRCh38 |
NC_000011.9:g.5247880T>G , CM000673.1:g.5247880T>G | GRCh37 |
NC_000011.8:g.5204456T>G | NCBI36 |
NG_000007.3:g.70966A>C | |
NG_059281.1:g.5422A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.242A>C | ENSP00000494175.1:p.Asn81Thr | |
ENST00000335295.4:c.242A>C MANE Select | ENSP00000333994.3:p.Asn81Thr | |
ENST00000380315.2:c.242A>C | ENSP00000369671.2:p.Asn81Thr | |
ENST00000475226.1:n.174A>C | ||
ENST00000485743.1:n.293A>C | ||
ENST00000633227.1:c.*58A>C | ENSP00000488004.1:n.*58A>C | |
NM_000518.4:c.242A>C | NP_000509.1:p.Asn81Thr | |
NM_000518.5:c.242A>C MANE Select | NP_000509.1:p.Asn81Thr |