HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65246387T>G , CM000674.2:g.65246387T>G | GRCh38 |
NC_000012.11:g.65640167T>G , CM000674.1:g.65640167T>G | GRCh37 |
NC_000012.10:g.63926434T>G | NCBI36 |
NG_016210.1:g.81817T>G | |
NG_016210.2:g.81817T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308330.3:c.*62T>G MANE Select | ENSP00000308369.2:n.*62T>G | |
ENST00000308330.2:c.*62T>G | ENSP00000308369.2:n.*62T>G | |
ENST00000539442.1:n.780T>G | ||
ENST00000545026.1:n.616T>G | ||
NM_001167614.1:c.*62T>G | NP_001161086.1:n.*62T>G | |
NM_014319.4:c.*62T>G | NP_055134.2:n.*62T>G | |
NM_014319.5:c.*62T>G MANE Select | NP_055134.2:n.*62T>G | |
NM_001167614.2:c.*62T>G | NP_001161086.1:n.*62T>G |