HGVS | Genome Assembly |
---|---|
NC_000005.10:g.63960164A>G , CM000667.2:g.63960164A>G | GRCh38 |
NC_000005.9:g.63255991A>G , CM000667.1:g.63255991A>G | GRCh37 |
NC_000005.8:g.63291747A>G | NCBI36 |
NG_032816.1:g.7129T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323865.5:c.*287T>C MANE Select | ENSP00000316244.4:n.*287T>C | |
NM_000524.3:c.*287T>C | NP_000515.2:n.*287T>C | |
NM_000524.4:c.*287T>C MANE Select | NP_000515.2:n.*287T>C |