HGVS | Genome Assembly |
---|---|
NC_000012.12:g.14978032T>A , CM000674.2:g.14978032T>A | GRCh38 |
NC_000012.11:g.15130966T>A , CM000674.1:g.15130966T>A | GRCh37 |
NC_000012.10:g.15022233T>A | NCBI36 |
NG_016859.1:g.10011T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266395.3:c.20T>A MANE Select | ENSP00000266395.2:p.Leu7Gln | |
ENST00000266395.2:c.20T>A | ENSP00000266395.2:p.Leu7Gln | |
NM_006205.2:c.20T>A | NP_006196.1:p.Leu7Gln | |
XR_931376.1:n.175+11455A>T | ||
XM_017019431.2:c.20T>A | XP_016874920.1:p.Leu7Gln | |
XR_931376.2:n.389+11455A>T | ||
NM_006205.3:c.20T>A MANE Select | NP_006196.1:p.Leu7Gln |