HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7533927C>A , CM000681.2:g.7533927C>A | GRCh38 |
NC_000019.9:g.7598813C>A , CM000681.1:g.7598813C>A | GRCh37 |
NC_000019.8:g.7504813C>A | NCBI36 |
NG_013374.1:g.4776C>A | |
NG_015806.1:g.16318C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.*132C>A MANE Select | ENSP00000264079.5:n.*132C>A | |
ENST00000264079.10:c.*132C>A | ENSP00000264079.5:n.*132C>A | |
ENST00000394321.9:n.2190C>A | ||
ENST00000599334.1:c.603C>A | ||
ENST00000601870.1:c.169+59C>A | ||
ENST00000602227.1:n.429C>A | ||
NM_020533.2:c.*132C>A | NP_065394.1:n.*132C>A | |
NM_020533.3:c.*132C>A MANE Select | NP_065394.1:n.*132C>A |