HGVS | Genome Assembly |
---|---|
NC_000012.12:g.14978033G>C , CM000674.2:g.14978033G>C | GRCh38 |
NC_000012.11:g.15130967G>C , CM000674.1:g.15130967G>C | GRCh37 |
NC_000012.10:g.15022234G>C | NCBI36 |
NG_016859.1:g.10012G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266395.3:c.21G>C MANE Select | ENSP00000266395.2:p.Leu7= | |
ENST00000266395.2:c.21G>C | ENSP00000266395.2:p.Leu7= | |
NM_006205.2:c.21G>C | NP_006196.1:p.Leu7= | |
XR_931376.1:n.175+11454C>G | ||
XM_017019431.2:c.21G>C | XP_016874920.1:p.Leu7= | |
XR_931376.2:n.389+11454C>G | ||
NM_006205.3:c.21G>C MANE Select | NP_006196.1:p.Leu7= |