HGVS | Genome Assembly |
---|---|
NC_000023.11:g.83508812A>C , CM000685.2:g.83508812A>C | GRCh38 |
NC_000023.10:g.82763820A>C , CM000685.1:g.82763820A>C | GRCh37 |
NC_000023.9:g.82650476A>C | NCBI36 |
NG_009936.2:g.5552A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644024.2:c.488A>C MANE Select | ENSP00000495996.1:p.His163Pro | |
ENST00000373200.4:c.488A>C | ENSP00000362296.2:p.His163Pro | |
NM_000307.4:c.488A>C | NP_000298.3:p.His163Pro | |
NM_000307.5:c.488A>C MANE Select | NP_000298.3:p.His163Pro |