HGVS | Genome Assembly |
---|---|
NC_000013.11:g.92670909G>T , CM000675.2:g.92670909G>T | GRCh38 |
NC_000013.10:g.93323162G>T , CM000675.1:g.93323162G>T | GRCh37 |
NC_000013.9:g.92121163G>T | NCBI36 |
NG_009370.1:g.1277228G>T | |
NG_009370.2:g.1277229G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000377067.9:c.1562-195373G>T MANE Select | ENSP00000366267.3:n.1562-195373G>T | |
ENST00000377067.8:c.1562-195373G>T | ENSP00000366267.3:n.1562-195373G>T | |
NM_004466.5:c.1562-195373G>T | NP_004457.1:n.1562-195373G>T | |
XR_931643.1:n.173+6609C>A | ||
XR_931644.1:n.173+6609C>A | ||
XM_017020435.2:c.1562-79055G>T | XP_016875924.1:n.1562-79055G>T | |
XR_931643.3:n.2210+6609C>A | ||
XR_931644.2:n.2210+6609C>A | ||
NM_004466.6:c.1562-195373G>T MANE Select | NP_004457.1:n.1562-195373G>T |