HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57565485T>G , CM000682.2:g.57565485T>G | GRCh38 |
NC_000020.10:g.56140541T>G , CM000682.1:g.56140541T>G | GRCh37 |
NC_000020.9:g.55573947T>G | NCBI36 |
NG_008205.1:g.9405T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.1550T>G MANE Select | ENSP00000319814.4:p.Phe517Cys | |
ENST00000319441.5:c.1550T>G | ENSP00000319814.4:p.Phe517Cys | |
ENST00000467047.1:n.4192T>G | ||
NM_002591.3:c.1550T>G | NP_002582.3:p.Phe517Cys | |
XM_011528839.1:c.1154T>G | XP_011527141.1:p.Phe385Cys | |
XM_024451888.1:c.1154T>G | XP_024307656.1:p.Phe385Cys | |
NM_002591.4:c.1550T>G MANE Select | NP_002582.3:p.Phe517Cys |