HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48965335C>A , CM000681.2:g.48965335C>A | GRCh38 |
NC_000019.9:g.49468592C>A , CM000681.1:g.49468592C>A | GRCh37 |
NC_000019.8:g.54160404C>A | NCBI36 |
NG_008152.1:g.5027C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331825.11:c.-173C>A MANE Select | ENSP00000366525.2:n.-173C>A | |
ENST00000331825.10:c.-173C>A | ENSP00000366525.2:n.-173C>A | |
ENST00000622577.2:c.-173C>A | ENSP00000484043.1:n.-173C>A | |
NM_000146.3:c.-173C>A | NP_000137.2:n.-173C>A | |
XM_024451447.1:c.338C>A | XP_024307215.1:p.Ser113Tyr | |
NM_000146.4:c.-173C>A MANE Select | NP_000137.2:n.-173C>A |