HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44352023C>G , CM000679.2:g.44352023C>G | GRCh38 |
NC_000017.10:g.42429391C>G , CM000679.1:g.42429391C>G | GRCh37 |
NC_000017.9:g.39784917C>G | NCBI36 |
NG_007886.1:g.11901C>G , LRG_661:g.11901C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000053867.8:c.1188C>G MANE Select | ENSP00000053867.2:p.Cys396Trp | |
ENST00000639447.1:c.1136+271C>G | ENSP00000492014.1:n.1136+271C>G | |
ENST00000053867.7:c.1188C>G | ENSP00000053867.2:p.Cys396Trp | |
ENST00000586443.1:c.629C>G | ||
ENST00000589265.5:c.717C>G | ENSP00000467616.1:p.Cys239Trp | |
NM_002087.3:c.1188C>G | NP_002078.1:p.Cys396Trp | |
XM_005257253.1:c.1188C>G | XP_005257310.1:p.Cys396Trp | |
XM_024450730.1:c.1188C>G | XP_024306498.1:p.Cys396Trp | |
NM_002087.4:c.1188C>G MANE Select | NP_002078.1:p.Cys396Trp |