HGVS | Genome Assembly |
---|---|
NC_000002.12:g.85581770A>C , CM000664.2:g.85581770A>C | GRCh38 |
NC_000002.11:g.85808893A>C , CM000664.1:g.85808893A>C | GRCh37 |
NC_000002.10:g.85662404A>C | NCBI36 |
NG_022887.1:g.9280A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263864.10:c.*54A>C MANE Select | ENSP00000263864.5:n.*54A>C | |
ENST00000263864.9:c.*54A>C | ENSP00000263864.5:n.*54A>C | |
ENST00000409760.1:c.*190A>C | ENSP00000387094.1:n.*190A>C | |
ENST00000432071.1:c.*54A>C | ENSP00000407984.1:n.*54A>C | |
NM_003761.4:c.*54A>C | NP_003752.2:n.*54A>C | |
XM_017005170.1:c.*190A>C | XP_016860659.1:n.*190A>C | |
NM_003761.5:c.*54A>C MANE Select | NP_003752.2:n.*54A>C |