HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55312964T>C , CM000681.2:g.55312964T>C | GRCh38 |
NC_000019.9:g.55824332T>C , CM000681.1:g.55824332T>C | GRCh37 |
NC_000019.8:g.60516144T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000326652.9:c.597A>G MANE Select | ENSP00000320757.4:p.Leu199= | |
ENST00000326652.8:c.597A>G | ENSP00000320757.4:p.Leu199= | |
ENST00000586609.5:c.*337A>G | ENSP00000466957.1:n.*337A>G | |
ENST00000592603.5:c.*337A>G | ENSP00000468745.1:n.*337A>G | |
NM_001085488.2:c.597A>G | NP_001078957.1:p.Leu199= | |
NM_001282011.1:c.597A>G | NP_001268940.1:p.Leu199= | |
NR_104066.1:n.751A>G | ||
NR_104071.1:n.702A>G | ||
XM_005258812.2:c.597A>G | XP_005258869.1:p.Leu199= | |
XM_011526850.1:c.506-2669A>G | XP_011525152.1:n.506-2669A>G | |
XM_011526852.1:c.597A>G | XP_011525154.1:p.Leu199= | |
XM_011526853.1:c.597A>G | XP_011525155.1:p.Leu199= | |
XM_011526854.1:c.597A>G | XP_011525156.1:p.Leu199= | |
XM_011526855.1:c.597A>G | XP_011525157.1:p.Leu199= | |
XM_011526856.1:c.597A>G | XP_011525158.1:p.Leu199= | |
XM_011526857.1:c.417A>G | XP_011525159.1:p.Leu139= | |
XM_005258812.4:c.597A>G | XP_005258869.1:p.Leu199= | |
XM_011526850.3:c.506-2669A>G | XP_011525152.1:n.506-2669A>G | |
XM_011526852.3:c.597A>G | XP_011525154.1:p.Leu199= | |
XM_011526853.2:c.597A>G | XP_011525155.1:p.Leu199= | |
XM_011526854.3:c.597A>G | XP_011525156.1:p.Leu199= | |
XM_011526855.3:c.597A>G | XP_011525157.1:p.Leu199= | |
XM_011526856.3:c.597A>G | XP_011525158.1:p.Leu199= | |
XM_011526857.2:c.417A>G | XP_011525159.1:p.Leu139= | |
XM_017026667.2:c.597A>G | XP_016882156.1:p.Leu199= | |
XM_017026668.1:c.417A>G | XP_016882157.1:p.Leu139= | |
NM_001085488.3:c.597A>G | NP_001078957.1:p.Leu199= | |
NM_001282011.2:c.597A>G MANE Select | NP_001268940.1:p.Leu199= | |
NR_104066.2:n.752A>G | ||
NR_104071.2:n.703A>G |