HGVS | Genome Assembly |
---|---|
NC_000012.12:g.14978064A>C , CM000674.2:g.14978064A>C | GRCh38 |
NC_000012.11:g.15130998A>C , CM000674.1:g.15130998A>C | GRCh37 |
NC_000012.10:g.15022265A>C | NCBI36 |
NG_016859.1:g.10043A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266395.3:c.52A>C MANE Select | ENSP00000266395.2:p.Thr18Pro | |
ENST00000266395.2:c.52A>C | ENSP00000266395.2:p.Thr18Pro | |
NM_006205.2:c.52A>C | NP_006196.1:p.Thr18Pro | |
XR_931376.1:n.175+11423T>G | ||
XM_017019431.2:c.52A>C | XP_016874920.1:p.Thr18Pro | |
XR_931376.2:n.389+11423T>G | ||
NM_006205.3:c.52A>C MANE Select | NP_006196.1:p.Thr18Pro |