HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18388683G>C , CM000681.2:g.18388683G>C | GRCh38 |
NC_000019.9:g.18499493G>C , CM000681.1:g.18499493G>C | GRCh37 |
NC_000019.8:g.18360493G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000595973.3:c.675G>C | ENSP00000470531.3:p.Trp225Cys | |
ENST00000597765.2:c.675G>C | ENSP00000469819.2:p.Trp225Cys | |
ENST00000252809.3:c.675G>C MANE Select | ENSP00000252809.3:p.Trp225Cys | |
NM_004864.2:c.675G>C | NP_004855.2:p.Trp225Cys | |
NM_004864.3:c.675G>C | NP_004855.2:p.Trp225Cys | |
XM_024451789.1:c.675G>C | XP_024307557.1:p.Trp225Cys | |
NM_004864.4:c.675G>C MANE Select | NP_004855.2:p.Trp225Cys |