HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98541914G>A , CM000671.2:g.98541914G>A | GRCh38 |
NC_000009.11:g.101304196G>A , CM000671.1:g.101304196G>A | GRCh37 |
NC_000009.10:g.100344017G>A | NCBI36 |
NG_016426.1:g.172284C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259455.4:c.589C>T MANE Select | ENSP00000259455.2:p.Arg197Cys | |
ENST00000637410.1:n.367C>T | ||
ENST00000637717.1:c.205C>T | ENSP00000490789.1:p.Arg69Cys | |
ENST00000259455.3:c.589C>T | ENSP00000259455.2:p.Arg197Cys | |
ENST00000477471.1:n.376C>T | ||
ENST00000634227.1:n.363C>T | ||
NM_005458.7:c.589C>T | NP_005449.5:p.Arg197Cys | |
XM_017015331.2:c.295C>T | XP_016870820.1:p.Arg99Cys | |
NM_005458.8:c.589C>T MANE Select | NP_005449.5:p.Arg197Cys |