HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67942894A>C , CM000678.2:g.67942894A>C | GRCh38 |
NC_000016.9:g.67976797A>C , CM000678.1:g.67976797A>C | GRCh37 |
NC_000016.8:g.66534298A>C | NCBI36 |
NG_009778.1:g.6219T>G | |
NG_033098.1:g.30801T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264005.10:c.394T>G MANE Select | ENSP00000264005.5:p.Ser132Ala | |
ENST00000264005.9:c.394T>G | ENSP00000264005.5:p.Ser132Ala | |
ENST00000570369.5:c.122T>G | ||
ENST00000570980.1:c.178T>G | ENSP00000464651.1:p.Ser60Ala | |
ENST00000573538.5:c.37T>G | ENSP00000463220.1:p.Ser13Ala | |
ENST00000573846.1:n.8T>G | ||
ENST00000575277.1:n.172T>G | ||
ENST00000575467.5:c.*89T>G | ENSP00000460653.1:n.*89T>G | |
NM_000229.1:c.394T>G | NP_000220.1:p.Ser132Ala | |
NM_000229.2:c.394T>G MANE Select | NP_000220.1:p.Ser132Ala |