HGVS | Genome Assembly |
---|---|
NC_000012.12:g.14977967C>A , CM000674.2:g.14977967C>A | GRCh38 |
NC_000012.11:g.15130901C>A , CM000674.1:g.15130901C>A | GRCh37 |
NC_000012.10:g.15022168C>A | NCBI36 |
NG_016859.1:g.9946C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266395.3:c.-41-5C>A MANE Select | ENSP00000266395.2:n.-41-5C>A | |
ENST00000266395.2:c.-41-5C>A | ENSP00000266395.2:n.-41-5C>A | |
NM_006205.2:c.-41-5C>A | NP_006196.1:n.-41-5C>A | |
XR_931376.1:n.175+11520G>T | ||
XM_017019431.2:c.-46C>A | XP_016874920.1:n.-46C>A | |
XR_931376.2:n.389+11520G>T | ||
NM_006205.3:c.-41-5C>A MANE Select | NP_006196.1:n.-41-5C>A |