HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48966200C>A , CM000681.2:g.48966200C>A | GRCh38 |
NC_000019.9:g.49469457C>A , CM000681.1:g.49469457C>A | GRCh37 |
NC_000019.8:g.54161269C>A | NCBI36 |
NG_008152.1:g.5892C>A | |
NG_012923.1:g.32154G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331825.11:c.250-81C>A MANE Select | ENSP00000366525.2:n.250-81C>A | |
ENST00000331825.10:c.250-81C>A | ENSP00000366525.2:n.250-81C>A | |
ENST00000622577.2:c.250-81C>A | ENSP00000484043.1:n.250-81C>A | |
NM_000146.3:c.250-81C>A | NP_000137.2:n.250-81C>A | |
XM_024451447.1:c.760-81C>A | XP_024307215.1:n.760-81C>A | |
NM_000146.4:c.250-81C>A MANE Select | NP_000137.2:n.250-81C>A |