HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67940379C>G , CM000678.2:g.67940379C>G | GRCh38 |
NC_000016.9:g.67974282C>G , CM000678.1:g.67974282C>G | GRCh37 |
NC_000016.8:g.66531783C>G | NCBI36 |
NG_009778.1:g.8734G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264005.10:c.848G>C MANE Select | ENSP00000264005.5:p.Trp283Ser | |
ENST00000264005.9:c.848G>C | ENSP00000264005.5:p.Trp283Ser | |
ENST00000570369.5:c.156-305G>C | ||
ENST00000570980.1:c.632G>C | ENSP00000464651.1:p.Trp211Ser | |
ENST00000573538.5:c.586G>C | ENSP00000463220.1:n.586G>C | |
NM_000229.1:c.848G>C | NP_000220.1:p.Trp283Ser | |
NM_000229.2:c.848G>C MANE Select | NP_000220.1:p.Trp283Ser |