HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869300C>A , CM000664.2:g.240869300C>A | GRCh38 |
NC_000002.11:g.241808717C>A , CM000664.1:g.241808717C>A | GRCh37 |
NC_000002.10:g.241457390C>A | NCBI36 |
NG_008005.1:g.5556C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.296C>A MANE Select | ENSP00000302620.3:p.Ser99Tyr | |
ENST00000307503.3:c.296C>A | ENSP00000302620.3:p.Ser99Tyr | |
ENST00000472436.1:n.316C>A | ||
NM_000030.2:c.296C>A | NP_000021.1:p.Ser99Tyr | |
XR_924060.1:n.405+933G>T | ||
NM_000030.3:c.296C>A MANE Select | NP_000021.1:p.Ser99Tyr |