HGVS | Genome Assembly |
---|---|
NC_000018.10:g.2865482C>A , CM000680.2:g.2865482C>A | GRCh38 |
NC_000018.9:g.2865480C>A , CM000680.1:g.2865480C>A | GRCh37 |
NC_000018.8:g.2855480C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254528.4:c.257+17551C>A MANE Select | ENSP00000254528.3:n.257+17551C>A | |
ENST00000254528.3:c.257+17551C>A | ENSP00000254528.3:n.257+17551C>A | |
NM_032048.2:c.257+17551C>A | NP_114437.2:n.257+17551C>A | |
XM_011525747.1:c.380+17551C>A | XP_011524049.1:n.380+17551C>A | |
XM_011525748.1:c.380+17551C>A | XP_011524050.1:n.380+17551C>A | |
XR_935070.1:n.699+17551C>A | ||
XM_017026038.2:c.257+17551C>A | XP_016881527.1:n.257+17551C>A | |
NM_032048.3:c.257+17551C>A MANE Select | NP_114437.2:n.257+17551C>A |