HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48965839G>A , CM000681.2:g.48965839G>A | GRCh38 |
NC_000019.9:g.49469096G>A , CM000681.1:g.49469096G>A | GRCh37 |
NC_000019.8:g.54160908G>A | NCBI36 |
NG_008152.1:g.5531G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000331825.11:c.172G>A MANE Select | ENSP00000366525.2:p.Glu58Lys | |
ENST00000331825.10:c.172G>A | ENSP00000366525.2:p.Glu58Lys | |
ENST00000622577.2:c.172G>A | ENSP00000484043.1:p.Glu58Lys | |
NM_000146.3:c.172G>A | NP_000137.2:p.Glu58Lys | |
XM_024451447.1:c.682G>A | XP_024307215.1:p.Glu228Lys | |
NM_000146.4:c.172G>A MANE Select | NP_000137.2:p.Glu58Lys |