HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65238510T>G , CM000674.2:g.65238510T>G | GRCh38 |
NC_000012.11:g.65632290T>G , CM000674.1:g.65632290T>G | GRCh37 |
NC_000012.10:g.63918557T>G | NCBI36 |
NG_016210.1:g.73940T>G | |
NG_016210.2:g.73940T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308330.3:c.1704T>G MANE Select | ENSP00000308369.2:p.Gly568= | |
ENST00000308330.2:c.1704T>G | ENSP00000308369.2:p.Gly568= | |
NM_001167614.1:c.1701T>G | NP_001161086.1:p.Gly567= | |
NM_014319.4:c.1704T>G | NP_055134.2:p.Gly568= | |
NM_014319.5:c.1704T>G MANE Select | NP_055134.2:p.Gly568= | |
NM_001167614.2:c.1701T>G | NP_001161086.1:p.Gly567= |