HGVS | Genome Assembly |
---|---|
NC_000016.10:g.57413298C>T , CM000678.2:g.57413298C>T | GRCh38 |
NC_000016.9:g.57447210C>T , CM000678.1:g.57447210C>T | GRCh37 |
NC_000016.8:g.56004711C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000219244.9:c.-59-576C>T MANE Select | ENSP00000219244.4:n.-59-576C>T | |
ENST00000219244.8:c.-59-576C>T | ENSP00000219244.4:n.-59-576C>T | |
NM_002987.2:c.-59-576C>T | NP_002978.1:n.-59-576C>T | |
XM_011523256.1:c.26-576C>T | XP_011521558.1:n.26-576C>T | |
XM_011523256.2:c.26-576C>T | XP_011521558.1:n.26-576C>T | |
XM_017023530.1:c.26-573C>T | XP_016879019.1:n.26-573C>T | |
NM_002987.3:c.-59-576C>T MANE Select | NP_002978.1:n.-59-576C>T |