HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67940473T>C , CM000678.2:g.67940473T>C | GRCh38 |
NC_000016.9:g.67974376T>C , CM000678.1:g.67974376T>C | GRCh37 |
NC_000016.8:g.66531877T>C | NCBI36 |
NG_009778.1:g.8640A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264005.10:c.754A>G MANE Select | ENSP00000264005.5:p.Asn252Asp | |
ENST00000264005.9:c.754A>G | ENSP00000264005.5:p.Asn252Asp | |
ENST00000570369.5:c.156-399A>G | ||
ENST00000570980.1:c.538A>G | ENSP00000464651.1:p.Asn180Asp | |
ENST00000573538.5:c.492A>G | ENSP00000463220.1:n.492A>G | |
NM_000229.1:c.754A>G | NP_000220.1:p.Asn252Asp | |
NM_000229.2:c.754A>G MANE Select | NP_000220.1:p.Asn252Asp |