HGVS | Genome Assembly |
---|---|
NC_000013.11:g.92670913C>A , CM000675.2:g.92670913C>A | GRCh38 |
NC_000013.10:g.93323166C>A , CM000675.1:g.93323166C>A | GRCh37 |
NC_000013.9:g.92121167C>A | NCBI36 |
NG_009370.1:g.1277232C>A | |
NG_009370.2:g.1277233C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000377067.9:c.1562-195369C>A MANE Select | ENSP00000366267.3:n.1562-195369C>A | |
ENST00000377067.8:c.1562-195369C>A | ENSP00000366267.3:n.1562-195369C>A | |
NM_004466.5:c.1562-195369C>A | NP_004457.1:n.1562-195369C>A | |
XR_931643.1:n.173+6605G>T | ||
XR_931644.1:n.173+6605G>T | ||
XM_017020435.2:c.1562-79051C>A | XP_016875924.1:n.1562-79051C>A | |
XR_931643.3:n.2210+6605G>T | ||
XR_931644.2:n.2210+6605G>T | ||
NM_004466.6:c.1562-195369C>A MANE Select | NP_004457.1:n.1562-195369C>A |