HGVS | Genome Assembly |
---|---|
NC_000012.12:g.66250246A>G , CM000674.2:g.66250246A>G | GRCh38 |
NC_000012.11:g.66644026A>G , CM000674.1:g.66644026A>G | GRCh37 |
NC_000012.10:g.64930293A>G | NCBI36 |
NG_021194.1:g.66049A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261233.9:c.*2075A>G MANE Select | ENSP00000261233.4:n.*2075A>G | |
ENST00000261233.8:c.*2075A>G | ENSP00000261233.4:n.*2075A>G | |
NM_001142523.1:c.*2075A>G | NP_001135995.1:n.*2075A>G | |
NM_007199.2:c.*2075A>G | NP_009130.2:n.*2075A>G | |
NM_001142523.2:c.*2075A>G | NP_001135995.1:n.*2075A>G | |
NM_007199.3:c.*2075A>G MANE Select | NP_009130.2:n.*2075A>G |