HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67940380A>G , CM000678.2:g.67940380A>G | GRCh38 |
NC_000016.9:g.67974283A>G , CM000678.1:g.67974283A>G | GRCh37 |
NC_000016.8:g.66531784A>G | NCBI36 |
NG_009778.1:g.8733T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264005.10:c.847T>C MANE Select | ENSP00000264005.5:p.Trp283Arg | |
ENST00000264005.9:c.847T>C | ENSP00000264005.5:p.Trp283Arg | |
ENST00000570369.5:c.156-306T>C | ||
ENST00000570980.1:c.631T>C | ENSP00000464651.1:p.Trp211Arg | |
ENST00000573538.5:c.585T>C | ENSP00000463220.1:n.585T>C | |
NM_000229.1:c.847T>C | NP_000220.1:p.Trp283Arg | |
NM_000229.2:c.847T>C MANE Select | NP_000220.1:p.Trp283Arg |