HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49061389G>T , CM000681.2:g.49061389G>T | GRCh38 |
NC_000019.9:g.49564646G>T , CM000681.1:g.49564646G>T | GRCh37 |
NC_000019.8:g.54256458G>T | NCBI36 |
NG_016289.1:g.7479C>A |
HGVS | Amino-acid change | |
---|---|---|
NM_006179.4:c.609C>A | NP_006170.1:p.Leu203= | |
XM_005258962.2:c.609C>A | XP_005259019.1:p.Leu203= | |
XM_006723232.2:c.609C>A | XP_006723295.1:p.Leu203= | |
XM_011527008.1:c.639C>A | XP_011525310.1:p.Leu213= | |
XM_011527009.1:c.609C>A | XP_011525311.1:p.Leu203= | |
XM_011527010.1:c.609C>A | XP_011525312.1:p.Leu203= | |
XM_005258962.3:c.609C>A | XP_005259019.1:p.Leu203= | |
XM_006723232.3:c.609C>A | XP_006723295.1:p.Leu203= | |
XM_011527008.2:c.639C>A | XP_011525310.1:p.Leu213= | |
XM_011527009.2:c.609C>A | XP_011525311.1:p.Leu203= | |
XM_011527010.2:c.609C>A | XP_011525312.1:p.Leu203= | |
XR_001753693.1:n.654C>A | ||
XR_001753694.1:n.654C>A | ||
ENST00000593537.1:n.609C>A | ENSP00000469455.1:p.Leu203= | |
ENST00000599795.5:c.243+366C>A | ENSP00000470689.1:p.= |