HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73367675T>G , CM000677.2:g.73367675T>G | GRCh38 |
NC_000015.9:g.73660016T>G , CM000677.1:g.73660016T>G | GRCh37 |
NC_000015.8:g.71447069T>G | NCBI36 |
NG_009063.1:g.6590A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.596A>C MANE Select | ENSP00000261917.3:p.Gln199Pro | |
ENST00000261917.3:c.596A>C | ENSP00000261917.3:p.Gln199Pro | |
NM_005477.2:c.596A>C | NP_005468.1:p.Gln199Pro | |
NM_005477.3:c.596A>C MANE Select | NP_005468.1:p.Gln199Pro |